| 13861 |
chr1 |
11794419 |
11794419 |
T |
G |
exonic |
MTHFR |
. |
nonsynonymous SNV |
MTHFR:NM_001330358:exon8:c.A1409C:p.E470A,MTHF... |
18560 |
Schizophrenia,_susceptibility_to|Gastrointesti... |
.|Human_Phenotype_Ontology:HP:0100723,MeSH:D04... |
reviewed_by_expert_panel |
drug_response |
0.5 |
135.00000 |
26 |
chr1 |
11794419 |
. |
T |
G |
135.00000 |
. |
DP=26;VDB=0.0975645;SGB=-0.680642;RPB=0.504695... |
GT:PL |
0/1:168,0,189 |
| 13867 |
chr1 |
11796321 |
11796321 |
G |
A |
exonic |
MTHFR |
. |
nonsynonymous SNV |
MTHFR:NM_001330358:exon5:c.C788T:p.A263V,MTHFR... |
18559 |
Neoplasm_of_stomach|Gastrointestinal_stroma_tu... |
Human_Phenotype_Ontology:HP:0006753,MeSH:D0132... |
reviewed_by_expert_panel |
drug_response |
0.5 |
50.00000 |
22 |
chr1 |
11796321 |
. |
G |
A |
50.00000 |
. |
DP=22;VDB=0.106656;SGB=-0.616816;RPB=0.906807;... |
GT:PL |
0/1:84,0,187 |
| 36243 |
chr1 |
30876800 |
30876800 |
C |
T |
exonic |
SDC3 |
. |
nonsynonymous SNV |
SDC3:NM_014654:exon3:c.G622A:p.V208I |
27795 |
Obesity,_association_with |
MedGen:C4016383 |
no_assertion_criteria_provided |
association |
0.5 |
120.00000 |
36 |
chr1 |
30876800 |
. |
C |
T |
120.00000 |
. |
DP=36;VDB=0.333459;SGB=-0.686358;RPB=0.377759;... |
GT:PL |
0/1:153,0,178 |
| 51313 |
chr1 |
46405089 |
46405089 |
C |
A |
exonic |
FAAH |
. |
nonsynonymous SNV |
FAAH:NM_001441:exon3:c.C385A:p.P129T |
21763 |
Polysubstance_abuse,_susceptibility_to |
MedGen:C1847831,OMIM:606581 |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
26 |
chr1 |
46405089 |
. |
C |
A |
225.00000 |
. |
DP=26;VDB=0.701482;SGB=-0.692914;MQSB=1;MQ0F=0... |
GT:PL |
1/1:255,75,0 |
| 56236 |
chr1 |
53247055 |
53247055 |
C |
T |
exonic |
LRP8 |
. |
nonsynonymous SNV |
LRP8:NM_017522:exon16:c.G2066A:p.R689Q,LRP8:NM... |
22035 |
Myocardial_infarction_1 |
MedGen:C1838021,OMIM:608446 |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
18 |
chr1 |
53247055 |
. |
C |
T |
225.00000 |
. |
DP=18;VDB=0.436636;SGB=-0.690438;MQSB=0.85832;... |
GT:PL |
1/1:255,51,0 |
| 86513 |
chr1 |
78490747 |
78490747 |
T |
C |
upstream |
PTGFR |
. |
. |
. |
227744 |
latanoprost_response_-_Efficacy |
MedGen:CN236563 |
reviewed_by_expert_panel |
drug_response |
1.0 |
225.00000 |
25 |
chr1 |
78490747 |
. |
T |
C |
225.00000 |
. |
DP=25;VDB=0.0334349;SGB=-0.692914;MQSB=1;MQ0F=... |
GT:PL |
1/1:255,75,0 |
| 124401 |
chr1 |
109274968 |
109274968 |
G |
T |
UTR3 |
CELSR2 |
NM_001408:c.*919G>T |
. |
. |
22120 |
Low_density_lipoprotein_cholesterol_level_quan... |
MedGen:C3150834,OMIM:613589 |
no_assertion_criteria_provided |
association |
0.5 |
153.00000 |
28 |
chr1 |
109274968 |
. |
G |
T |
153.00000 |
. |
DP=28;VDB=0.0272587;SGB=-0.688148;RPB=0.105117... |
GT:PL |
0/1:186,0,168 |
| 129828 |
chr1 |
113872746 |
113872746 |
G |
C |
ncRNA_intronic |
AP4B1-AS1 |
. |
. |
. |
23949 |
Diabetes_mellitus,_insulin-dependent,_suscepti... |
. |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
27 |
chr1 |
113872746 |
. |
G |
C |
225.00000 |
. |
DP=27;VDB=0.0510375;SGB=-0.692914;MQSB=0.97321... |
GT:PL |
1/1:255,75,0 |
| 144535 |
chr1 |
154454494 |
154454494 |
A |
C |
exonic |
IL6R |
. |
nonsynonymous SNV |
IL6R:NM_000565:exon9:c.A1073C:p.D358A |
29699 |
Interleukin_6,_serum_level_of,_quantitative_tr... |
MedGen:C3540094,OMIM:614752|MedGen:C3553493,OM... |
no_assertion_criteria_provided |
association |
0.5 |
44.16960 |
12 |
chr1 |
154454494 |
. |
A |
C |
44.16960 |
. |
DP=12;VDB=0.431509;SGB=-0.590765;RPB=0.896474;... |
GT:PL |
0/1:77,0,100 |
| 145449 |
chr1 |
155309691 |
155309691 |
T |
G |
intronic |
FDPS |
. |
. |
. |
227741 |
Bisphosphonates_response_-_Efficacy |
MedGen:CN236487 |
reviewed_by_expert_panel |
drug_response |
0.5 |
26.43420 |
21 |
chr1 |
155309691 |
. |
T |
G |
26.43420 |
. |
DP=21;VDB=0.388649;SGB=-0.636426;RPB=0.999305;... |
GT:PL |
0/1:60,0,173 |
| 146054 |
chr1 |
156243466 |
156243466 |
G |
A |
UTR3 |
PAQR6 |
NM_198406:c.*663C>T,NM_001272105:c.*663C>T,NM_... |
. |
. |
132377 |
Calcium_oxalate_urolithiasis |
Human_Phenotype_Ontology:HP:0008672,MedGen:C18... |
no_assertion_criteria_provided |
association |
1.0 |
225.00000 |
25 |
chr1 |
156243466 |
. |
G |
A |
225.00000 |
. |
DP=25;VDB=0.144994;SGB=-0.692914;MQSB=1;MQ0F=0... |
GT:PL |
1/1:255,75,0 |
| 151289 |
chr1 |
160837925 |
160837925 |
T |
C |
intronic |
CD244 |
. |
. |
. |
19934 |
Rheumatoid_arthritis |
Human_Phenotype_Ontology:HP:0001370,MedGen:C00... |
no_assertion_criteria_provided |
risk_factor |
0.5 |
165.00000 |
24 |
chr1 |
160837925 |
. |
T |
C |
165.00000 |
. |
DP=24;VDB=0.0605583;SGB=-0.688148;RPB=0.248136... |
GT:PL |
0/1:198,0,135 |
| 151635 |
chr1 |
161039733 |
161039733 |
G |
A |
UTR3 |
USF1 |
NM_007122:c.*187C>T,NM_001276373:c.*187C>T,NM_... |
. |
. |
27333 |
Hyperlipidemia,_familial_combined,_susceptibil... |
. |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
23 |
chr1 |
161039733 |
. |
G |
A |
225.00000 |
. |
DP=23;VDB=0.562783;SGB=-0.692717;MQSB=1;MQ0F=0... |
GT:PL |
1/1:255,69,0 |
| 151636 |
chr1 |
161040972 |
161040972 |
C |
T |
intronic |
USF1 |
. |
. |
. |
27334 |
Hyperlipidemia,_familial_combined,_susceptibil... |
. |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
24 |
chr1 |
161040972 |
. |
C |
T |
225.00000 |
. |
DP=24;VDB=0.000561203;SGB=-0.692717;MQSB=0.366... |
GT:PL |
1/1:255,69,0 |
| 151997 |
chr1 |
161509955 |
161509955 |
A |
G |
exonic |
FCGR2A |
. |
nonsynonymous SNV |
FCGR2A:NM_001136219:exon4:c.A500G:p.H167R,FCGR... |
29862 |
Lupus_nephritis,_susceptibility_to|Pseudomonas... |
.|.|MedGen:C1970029|MedGen:CN169374|MedGen:CN2... |
reviewed_by_expert_panel |
drug_response |
0.5 |
99.00000 |
22 |
chr1 |
161509955 |
. |
A |
G |
99.00000 |
. |
DP=22;VDB=0.562181;SGB=-0.683931;RPB=0.945784;... |
GT:PL |
0/1:132,0,135 |
| 176866 |
chr1 |
182585422 |
182585422 |
C |
T |
exonic |
RNASEL |
. |
nonsynonymous SNV |
RNASEL:NM_021133:exon2:c.G1385A:p.R462Q |
28045 |
Prostate_cancer,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
0.5 |
106.00000 |
25 |
chr1 |
182585422 |
. |
C |
T |
106.00000 |
. |
DP=25;VDB=0.0971011;SGB=-0.670168;RPB=0.50373;... |
GT:PL |
0/1:139,0,162 |
| 201968 |
chr1 |
203186754 |
203186754 |
G |
C |
UTR5 |
CHI3L1 |
NM_001276:c.-131C>G |
. |
. |
23151 |
Asthma-related_traits,_susceptibility_to,_7 |
MedGen:C2677770,OMIM:611960 |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
30 |
chr1 |
203186754 |
. |
G |
C |
225.00000 |
. |
DP=30;VDB=0.193287;SGB=-0.693021;MQSB=0.97357;... |
GT:PL |
1/1:255,81,0 |
| 228466 |
chr1 |
225831932 |
225831932 |
T |
C |
exonic |
EPHX1 |
. |
nonsynonymous SNV |
EPHX1:NM_000120:exon3:c.T337C:p.Y113H,EPHX1:NM... |
31643 |
EPOXIDE_HYDROLASE_1_POLYMORPHISM|carbamazepine... |
.|MedGen:CN236494 |
reviewed_by_expert_panel |
drug_response |
0.5 |
136.00000 |
32 |
chr1 |
225831932 |
. |
T |
C |
136.00000 |
. |
DP=32;VDB=0.681875;SGB=-0.686358;RPB=0.992935;... |
GT:PL |
0/1:169,0,208 |
| 228479 |
chr1 |
225838705 |
225838705 |
A |
G |
exonic |
EPHX1 |
. |
nonsynonymous SNV |
EPHX1:NM_000120:exon4:c.A416G:p.H139R,EPHX1:NM... |
31644 |
EPOXIDE_HYDROLASE_1_POLYMORPHISM|carbamazepine... |
.|MedGen:CN236494 |
reviewed_by_expert_panel |
drug_response |
0.5 |
87.00000 |
28 |
chr1 |
225838705 |
. |
A |
G |
87.00000 |
. |
DP=28;VDB=0.52194;SGB=-0.676189;RPB=0.359175;M... |
GT:PL |
0/1:120,0,177 |
| 298312 |
chr2 |
27508073 |
27508073 |
T |
C |
exonic |
GCKR |
. |
nonsynonymous SNV |
GCKR:NM_001486:exon15:c.T1337C:p.L446P |
23790 |
Fasting_plasma_glucose_level_quantitative_trai... |
MedGen:C3150714,OMIM:613463 |
no_assertion_criteria_provided |
association |
0.5 |
43.23200 |
18 |
chr2 |
27508073 |
. |
T |
C |
43.23200 |
. |
DP=18;VDB=0.820899;SGB=-0.651104;RPB=0.457304;... |
GT:PL |
0/1:76,0,136 |
| 305686 |
chr2 |
33457670 |
33457670 |
G |
T |
intronic |
RASGRP3 |
. |
. |
. |
237595 |
Lip_and_oral_cavity_carcinoma |
MedGen:C0220641 |
criteria_provided,_single_submitter |
association |
0.5 |
163.00000 |
27 |
chr2 |
33457670 |
. |
G |
T |
163.00000 |
. |
DP=27;VDB=0.788008;SGB=-0.689466;RPB=0.998612;... |
GT:PL |
0/1:196,0,144 |
| 335229 |
chr2 |
54248729 |
54248729 |
C |
A |
intronic |
ACYP2 |
. |
. |
. |
362286 |
Chronic_osteomyelitis |
MedGen:C0008707 |
no_assertion_criteria_provided |
association |
1.0 |
225.00000 |
19 |
chr2 |
54248729 |
. |
C |
A |
225.00000 |
. |
DP=19;VDB=0.041954;SGB=-0.690438;MQSB=0.943335... |
GT:PL |
1/1:255,51,0 |
| 342444 |
chr2 |
60493111 |
60493111 |
C |
T |
intronic |
BCL11A |
. |
. |
. |
132722 |
Fetal_hemoglobin_quantitative_trait_locus_5 |
Gene:3247,MedGen:C1969758,OMIM:142335 |
no_assertion_criteria_provided |
Likely_pathogenic |
0.5 |
99.00000 |
34 |
chr2 |
60493111 |
. |
C |
T |
99.00000 |
. |
DP=34;VDB=0.551647;SGB=-0.670168;RPB=0.803523;... |
GT:PL |
0/1:132,0,237 |
| 388300 |
chr2 |
112836810 |
112836810 |
G |
A |
upstream |
IL1B |
. |
. |
. |
29710 |
Gastric_cancer_susceptibility_after_h._pylori_... |
. |
no_assertion_criteria_provided |
risk_factor |
0.5 |
132.00000 |
26 |
chr2 |
112836810 |
. |
G |
A |
132.00000 |
. |
DP=26;VDB=0.989848;SGB=-0.683931;RPB=0.615676;... |
GT:PL |
0/1:165,0,154 |
| 414911 |
chr2 |
135851076 |
135851076 |
G |
A |
intronic |
MCM6 |
. |
. |
. |
22724 |
Lactase_persistence |
MedGen:C1857231 |
no_assertion_criteria_provided |
association |
1.0 |
225.00000 |
33 |
chr2 |
135851076 |
. |
G |
A |
225.00000 |
. |
DP=33;VDB=0.0303794;SGB=-0.693097;MQSB=1;MQ0F=... |
GT:PL |
1/1:255,90,0 |
| 414921 |
chr2 |
135859184 |
135859184 |
C |
T |
intronic |
MCM6 |
. |
. |
. |
22725 |
Lactase_persistence |
MedGen:C1857231 |
no_assertion_criteria_provided |
association |
1.0 |
225.00000 |
27 |
chr2 |
135859184 |
. |
C |
T |
225.00000 |
. |
DP=27;VDB=0.453873;SGB=-0.692976;MQSB=0.018228... |
GT:PL |
1/1:255,78,0 |
| 449945 |
chr2 |
166053034 |
166053034 |
C |
T |
intronic |
SCN1A |
. |
. |
. |
27936 |
Febrile_seizures,_familial,_3a|carbamazepine_r... |
MedGen:C2751756|MedGen:CN236494|MedGen:CN23654... |
reviewed_by_expert_panel |
drug_response |
1.0 |
197.00000 |
12 |
chr2 |
166053034 |
. |
C |
T |
197.00000 |
. |
DP=12;VDB=0.00224346;SGB=-0.680642;MQSB=0.8964... |
GT:PL |
1/1:227,36,0 |
| 469956 |
chr2 |
182834857 |
182834857 |
G |
C |
exonic |
FRZB |
. |
nonsynonymous SNV |
FRZB:NM_001463:exon6:c.C970G:p.R324G |
20259 |
Osteoarthritis |
Human_Phenotype_Ontology:HP:0002758,MedGen:C00... |
no_assertion_criteria_provided |
risk_factor |
0.5 |
161.00000 |
32 |
chr2 |
182834857 |
. |
G |
C |
161.00000 |
. |
DP=32;VDB=0.665071;SGB=-0.690438;RPB=0.730199;... |
GT:PL |
0/1:194,0,104 |
| 497340 |
chr2 |
207629510 |
207629510 |
T |
C |
intergenic |
METTL21A,LINC01857 |
dist=3457;dist=32874 |
. |
. |
227828 |
buprenorphine_response_-_Dosage|fentanyl_respo... |
MedGen:CN236489|MedGen:CN236531|MedGen:CN23653... |
reviewed_by_expert_panel |
drug_response |
1.0 |
225.00000 |
21 |
chr2 |
207629510 |
. |
T |
C |
225.00000 |
. |
DP=21;VDB=0.250223;SGB=-0.69168;MQSB=0.940317;... |
GT:PL |
1/1:255,57,0 |
| 522221 |
chr2 |
226795828 |
226795828 |
C |
T |
exonic |
IRS1 |
. |
nonsynonymous SNV |
IRS1:NM_005544:exon1:c.G2911A:p.G971R |
38716 |
Coronary_artery_disease,_susceptibility_to|Ins... |
MedGen:C1840169|MedGen:C1852091 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
118.00000 |
22 |
chr2 |
226795828 |
. |
C |
T |
118.00000 |
. |
DP=22;VDB=0.171636;SGB=-0.670168;RPB=0.740818;... |
GT:PL |
0/1:151,0,144 |
| 531716 |
chr2 |
233759924 |
233759924 |
C |
T |
intronic |
UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT... |
. |
. |
. |
227747 |
atazanavir_response_-_Other |
MedGen:CN236483 |
reviewed_by_expert_panel |
drug_response |
0.5 |
72.00000 |
19 |
chr2 |
233759924 |
. |
C |
T |
72.00000 |
. |
DP=19;VDB=0.250121;SGB=-0.616816;RPB=0.371614;... |
GT:PL |
0/1:105,0,176 |
| 531718 |
chr2 |
233763993 |
233763993 |
G |
T |
intronic |
UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT... |
. |
. |
. |
27328 |
Bilirubin,_serum_level_of,_quantitative_trait_... |
MedGen:C1866173,OMIM:601816 |
no_assertion_criteria_provided |
association |
0.5 |
136.00000 |
24 |
chr2 |
233763993 |
. |
G |
T |
136.00000 |
. |
DP=24;VDB=0.39866;SGB=-0.683931;RPB=0.966585;M... |
GT:PL |
0/1:169,0,142 |
| 541513 |
chr2 |
240591746 |
240591746 |
T |
C |
intronic |
CAPN10 |
. |
. |
. |
20135 |
Polycystic_ovary_syndrome,_susceptibility_to|D... |
.|Human_Phenotype_Ontology:HP:0005978,MedGen:C... |
no_assertion_criteria_provided |
risk_factor |
0.5 |
65.00000 |
26 |
chr2 |
240591746 |
. |
T |
C |
65.00000 |
. |
DP=26;VDB=0.480966;SGB=-0.651104;RPB=0.994773;... |
GT:PL |
0/1:98,0,195 |
| 566569 |
chr3 |
14145949 |
14145949 |
G |
T |
exonic |
XPC |
. |
nonsynonymous SNV |
XPC:NM_004628:exon16:c.C2815A:p.Q939K |
187973 |
Xeroderma_pigmentosum|not_specified|cisplatin_... |
MedGen:C0043346,Orphanet:ORPHA910,SNOMED_CT:44... |
reviewed_by_expert_panel |
drug_response |
0.5 |
189.00000 |
33 |
chr3 |
14145949 |
. |
G |
T |
189.00000 |
. |
DP=33;VDB=0.699406;SGB=-0.692067;RPB=0.981239;... |
GT:PL |
0/1:222,0,156 |
| 763518 |
chr3 |
186618238 |
186618238 |
T |
G |
intronic |
AHSG |
. |
. |
. |
132378 |
Calcium_oxalate_urolithiasis |
Human_Phenotype_Ontology:HP:0008672,MedGen:C18... |
no_assertion_criteria_provided |
association |
0.5 |
123.00000 |
17 |
chr3 |
186618238 |
. |
T |
G |
123.00000 |
. |
DP=17;VDB=0.740471;SGB=-0.670168;RPB=0.943335;... |
GT:PL |
0/1:156,0,115 |
| 763519 |
chr3 |
186618387 |
186618387 |
A |
G |
intronic |
AHSG |
. |
. |
. |
132379 |
Calcium_oxalate_urolithiasis |
Human_Phenotype_Ontology:HP:0008672,MedGen:C18... |
no_assertion_criteria_provided |
association |
0.5 |
84.00000 |
21 |
chr3 |
186618387 |
. |
A |
G |
84.00000 |
. |
DP=21;VDB=0.970307;SGB=-0.651104;RPB=0.996597;... |
GT:PL |
0/1:117,0,142 |
| 780278 |
chr4 |
1084399 |
1084399 |
G |
A |
intronic |
RNF212 |
. |
. |
. |
15775 |
Recombination_rate_quantitative_trait_locus_1 |
MedGen:C2677576,OMIM:612042 |
no_assertion_criteria_provided |
association |
1.0 |
225.00000 |
35 |
chr4 |
1084399 |
. |
G |
A |
225.00000 |
. |
DP=35;VDB=0.452115;SGB=-0.69312;MQSB=0.813784;... |
GT:PL |
1/1:255,96,0 |
| 780309 |
chr4 |
1101493 |
1101493 |
A |
G |
intronic |
RNF212 |
. |
. |
. |
15774 |
Recombination_rate_quantitative_trait_locus_1 |
MedGen:C2677576,OMIM:612042 |
no_assertion_criteria_provided |
association |
1.0 |
198.00000 |
15 |
chr4 |
1101493 |
. |
A |
G |
198.00000 |
. |
DP=15;VDB=0.915919;SGB=-0.688148;MQSB=1;MQ0F=0... |
GT:PL |
1/1:228,45,0 |
| 782686 |
chr4 |
2904980 |
2904980 |
G |
T |
exonic |
ADD1 |
. |
nonsynonymous SNV |
ADD1:NM_001119:exon10:c.G1378T:p.G460W,ADD1:NM... |
33313 |
Hypertension,_salt-sensitive_essential,_suscep... |
.|MedGen:CN236476 |
reviewed_by_expert_panel |
drug_response |
0.5 |
170.00000 |
31 |
chr4 |
2904980 |
. |
G |
T |
170.00000 |
. |
DP=31;VDB=0.864436;SGB=-0.690438;RPB=0.999803;... |
GT:PL |
0/1:203,0,179 |
| 787503 |
chr4 |
6293966 |
6293966 |
C |
G |
intronic |
WFS1 |
. |
. |
. |
19567 |
Diabetes_mellitus,_noninsulin-dependent,_assoc... |
MedGen:C4016960 |
no_assertion_criteria_provided |
Pathogenic |
1.0 |
225.00000 |
26 |
chr4 |
6293966 |
. |
C |
G |
225.00000 |
. |
DP=26;VDB=0.26019;SGB=-0.692831;MQSB=1;MQ0F=0;... |
GT:PL |
1/1:255,72,0 |
| 794257 |
chr4 |
9992591 |
9992591 |
C |
T |
intronic |
SLC2A9 |
. |
. |
. |
19633 |
Uric_acid_concentration,_serum,_quantitative_t... |
MedGen:C2677550 |
no_assertion_criteria_provided |
association |
1.0 |
225.00000 |
28 |
chr4 |
9992591 |
. |
C |
T |
225.00000 |
. |
DP=28;VDB=0.52706;SGB=-0.693054;MQSB=0.877755;... |
GT:PL |
1/1:255,84,0 |
| 843026 |
chr4 |
46303716 |
46303716 |
T |
C |
intronic |
GABRA2 |
. |
. |
. |
31257 |
Alcoholism,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
1.0 |
223.00000 |
19 |
chr4 |
46303716 |
. |
T |
C |
223.00000 |
. |
DP=19;VDB=0.169822;SGB=-0.69168;MQSB=1;MQ0F=0;... |
GT:PL |
1/1:253,57,0 |
| 843066 |
chr4 |
46327706 |
46327706 |
T |
A |
intronic |
GABRA2 |
. |
. |
. |
31258 |
Alcoholism,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
0.5 |
128.00000 |
19 |
chr4 |
46327706 |
. |
T |
A |
128.00000 |
. |
DP=19;VDB=0.453492;SGB=-0.670168;RPB=0.868634;... |
GT:PL |
0/1:161,0,125 |
| 843088 |
chr4 |
46337053 |
46337053 |
T |
A |
intronic |
GABRA2 |
. |
. |
. |
31259 |
Alcoholism,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
0.5 |
115.00000 |
20 |
chr4 |
46337053 |
. |
T |
A |
115.00000 |
. |
DP=20;VDB=0.910125;SGB=-0.670168;RPB=0.970446;... |
GT:PL |
0/1:148,0,130 |
| 872510 |
chr4 |
68670366 |
68670366 |
A |
C |
exonic |
UGT2B15 |
. |
nonsynonymous SNV |
UGT2B15:NM_001076:exon1:c.T253G:p.Y85D |
227750 |
oxazepam_response_-_Other|lorazepam_response_-... |
MedGen:CN236612|MedGen:CN240605 |
reviewed_by_expert_panel |
drug_response |
1.0 |
100.00000 |
10 |
chr4 |
68670366 |
. |
A |
C |
100.00000 |
. |
DP=10;VDB=0.103091;SGB=-0.636426;MQSB=0;MQ0F=0... |
GT:PL |
1/1:130,21,0 |
| 878868 |
chr4 |
73076961 |
73076961 |
C |
T |
exonic |
ANKRD17 |
. |
synonymous SNV |
ANKRD17:NM_198889:exon32:c.G6978A:p.T2326T,ANK... |
424258 |
Lip_and_oral_cavity_carcinoma |
MedGen:C0220641 |
criteria_provided,_single_submitter |
association |
1.0 |
225.00000 |
22 |
chr4 |
73076961 |
. |
C |
T |
225.00000 |
. |
DP=22;VDB=0.444327;SGB=-0.692067;MQSB=1;MQ0F=0... |
GT:PL |
1/1:255,60,0 |
| 916645 |
chr4 |
109912954 |
109912954 |
A |
G |
UTR5 |
EGF |
NM_001963:c.-382A>G,NM_001178130:c.-382A>G,NM_... |
. |
. |
227748 |
cetuximab_response_-_Efficacy|Renal_Hypomagnes... |
MedGen:CN236500|MedGen:CN239444 |
reviewed_by_expert_panel |
drug_response |
0.5 |
135.00000 |
27 |
chr4 |
109912954 |
. |
A |
G |
135.00000 |
. |
DP=27;VDB=0.172273;SGB=-0.680642;RPB=0.621145;... |
GT:PL |
0/1:168,0,204 |
| 986313 |
chr4 |
163086668 |
163086668 |
A |
G |
intergenic |
FSTL5,MIR4454 |
dist=922634;dist=6906 |
. |
. |
362288 |
Chronic_osteomyelitis |
MedGen:C0008707 |
no_assertion_criteria_provided |
association |
1.0 |
225.00000 |
21 |
chr4 |
163086668 |
. |
A |
G |
225.00000 |
. |
DP=21;VDB=0.628718;SGB=-0.69168;MQSB=1;MQ0F=0;... |
GT:PL |
1/1:255,57,0 |
| 1023753 |
chr4 |
186236880 |
186236880 |
G |
A |
exonic |
KLKB1 |
. |
nonsynonymous SNV |
KLKB1:NM_000892:exon5:c.G428A:p.S143N,KLKB1:NM... |
27076 |
Prekallikrein_deficiency |
MedGen:C0272339,OMIM:612423,Orphanet:ORPHA749,... |
no_assertion_criteria_provided |
Pathogenic |
0.5 |
194.00000 |
29 |
chr4 |
186236880 |
. |
G |
A |
194.00000 |
. |
DP=29;VDB=0.217422;SGB=-0.692067;RPB=0.98843;M... |
GT:PL |
0/1:228,0,101 |
| 1033052 |
chr5 |
1286401 |
1286401 |
C |
A |
intronic |
TERT |
. |
. |
. |
362289 |
Chronic_osteomyelitis |
MedGen:C0008707 |
no_assertion_criteria_provided |
association |
1.0 |
225.00000 |
40 |
chr5 |
1286401 |
. |
C |
A |
225.00000 |
. |
DP=40;VDB=0.677072;SGB=-0.693143;MQSB=1;MQ0F=0... |
GT:PL |
1/1:255,114,0 |
| 1033066 |
chr5 |
1296371 |
1296371 |
A |
G |
intergenic |
TERT,MIR4457 |
dist=1324;dist=12939 |
. |
. |
362290 |
Chronic_osteomyelitis |
MedGen:C0008707 |
no_assertion_criteria_provided |
association |
1.0 |
221.00000 |
33 |
chr5 |
1296371 |
. |
A |
G |
221.00000 |
. |
DP=33;VDB=0.801301;SGB=-0.693054;MQSB=0.956162... |
GT:PL |
1/1:251,84,0 |
| 1045614 |
chr5 |
7870860 |
7870860 |
A |
G |
exonic |
MTRR |
. |
nonsynonymous SNV |
MTRR:NM_002454:exon2:c.A66G:p.I22M,MTRR:NM_024... |
22068 |
Down_syndrome,_susceptibility_to|Neural_tube_d... |
.|.|Human_Phenotype_Ontology:HP:0100723,MeSH:D... |
reviewed_by_expert_panel |
drug_response |
0.5 |
57.00000 |
22 |
chr5 |
7870860 |
. |
A |
G |
57.00000 |
. |
DP=22;VDB=0.250121;SGB=-0.616816;RPB=0.732319;... |
GT:PL |
0/1:90,0,188 |
| 1114361 |
chr5 |
63962738 |
63962738 |
C |
G |
upstream |
HTR1A |
. |
. |
. |
362497 |
not_specified|paroxetine_response_-_Efficacy |
MedGen:CN169374|MedGen:CN236573 |
reviewed_by_expert_panel |
drug_response |
0.5 |
142.00000 |
38 |
chr5 |
63962738 |
. |
C |
G |
142.00000 |
. |
DP=38;VDB=0.0064424;SGB=-0.692352;RPB=0.498303... |
GT:PL |
0/1:175,0,185 |
| 1189570 |
chr5 |
132660272 |
132660272 |
A |
G |
exonic |
IL13 |
. |
nonsynonymous SNV |
IL13:NM_002188:exon4:c.A431G:p.Q144R |
29712 |
Allergic_rhinitis,_susceptibility_to|Asthma,_s... |
.|MedGen:C1869116,OMIM:600807 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
136.00000 |
30 |
chr5 |
132660272 |
. |
A |
G |
136.00000 |
. |
DP=30;VDB=0.252995;SGB=-0.690438;RPB=0.872109;... |
GT:PL |
0/1:169,0,177 |
| 1206449 |
chr5 |
148826877 |
148826877 |
G |
A |
exonic |
ADRB2 |
. |
nonsynonymous SNV |
ADRB2:NM_000024:exon1:c.G46A:p.G16R |
227753 |
salbutamol_response_-_Efficacy|salmeterol_resp... |
MedGen:CN236579|MedGen:CN236580 |
reviewed_by_expert_panel |
drug_response |
0.5 |
9.09095 |
19 |
chr5 |
148826877 |
. |
G |
A |
9.09095 |
. |
DP=19;VDB=0.0483573;SGB=-0.556411;RPB=0.349501... |
GT:PL |
0/1:43,0,172 |
| 1228498 |
chr5 |
168418786 |
168418786 |
C |
T |
intronic |
WWC1 |
. |
. |
. |
16252 |
Memory_quantitative_trait_locus |
MedGen:C3810089,OMIM:615602 |
no_assertion_criteria_provided |
association |
0.5 |
133.00000 |
26 |
chr5 |
168418786 |
. |
C |
T |
133.00000 |
. |
DP=26;VDB=0.711292;SGB=-0.680642;RPB=0.511891;... |
GT:PL |
0/1:166,0,192 |
| 1238603 |
chr5 |
177093242 |
177093242 |
G |
A |
exonic |
FGFR4 |
. |
nonsynonymous SNV |
FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:N... |
31365 |
Cancer_progression_and_tumor_cell_motility |
MedGen:C4016099 |
no_assertion_criteria_provided |
Pathogenic |
0.5 |
141.00000 |
35 |
chr5 |
177093242 |
. |
G |
A |
141.00000 |
. |
DP=35;VDB=0.200918;SGB=-0.688148;RPB=0.982333;... |
GT:PL |
0/1:174,0,161 |
| 1290351 |
chr6 |
31146405 |
31146405 |
A |
G |
intronic |
CCHCR1 |
. |
. |
. |
227833 |
nevirapine_response_-_Toxicity/ADR |
MedGen:CN236609 |
reviewed_by_expert_panel |
drug_response |
0.5 |
148.00000 |
33 |
chr6 |
31146405 |
. |
A |
G |
148.00000 |
. |
DP=33;VDB=0.196919;SGB=-0.688148;RPB=0.631923;... |
GT:PL |
0/1:181,0,216 |
| 1293443 |
chr6 |
31572536 |
31572536 |
A |
G |
intronic |
LTA |
. |
. |
. |
29419 |
Myocardial_infarction|Psoriatic_arthritis,_sus... |
Human_Phenotype_Ontology:HP:0001658,MedGen:C00... |
no_assertion_criteria_provided |
risk_factor |
0.5 |
60.00000 |
13 |
chr6 |
31572536 |
. |
A |
G |
60.00000 |
. |
DP=13;VDB=0.348672;SGB=-0.616816;RPB=0.71154;M... |
GT:PL |
0/1:93,0,109 |
| 1293448 |
chr6 |
31573007 |
31573007 |
C |
A |
exonic |
LTA |
. |
nonsynonymous SNV |
LTA:NM_000595:exon3:c.C179A:p.T60N,LTA:NM_0011... |
29418 |
Myocardial_infarction |
Human_Phenotype_Ontology:HP:0001658,MedGen:C00... |
no_assertion_criteria_provided |
risk_factor |
0.5 |
83.00000 |
24 |
chr6 |
31573007 |
. |
C |
A |
83.00000 |
. |
DP=24;VDB=0.66732;SGB=-0.680642;RPB=0.950833;M... |
GT:PL |
0/1:116,0,146 |
| 1293449 |
chr6 |
31575254 |
31575254 |
G |
A |
upstream;downstream |
TNF;LTA |
. |
. |
. |
227757 |
Tumor_necrosis_factor_alpha_(TNF-alpha)_inhibi... |
MedGen:CN236447|MedGen:CN236459|MedGen:CN23655... |
reviewed_by_expert_panel |
drug_response |
0.5 |
73.00000 |
26 |
chr6 |
31575254 |
. |
G |
A |
73.00000 |
. |
DP=26;VDB=0.787989;SGB=-0.636426;RPB=0.910002;... |
GT:PL |
0/1:106,0,207 |
| 1314265 |
chr6 |
43770613 |
43770613 |
C |
G |
UTR5 |
VEGFA |
NM_001171625:c.-634C>G,NM_001171624:c.-634C>G,... |
. |
. |
27262 |
Microvascular_complications_of_diabetes_1 |
Gene:23771,MedGen:C2676832,OMIM:603933 |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
32 |
chr6 |
43770613 |
. |
C |
G |
225.00000 |
. |
DP=32;VDB=0.609743;SGB=-0.69311;MQSB=1;MQ0F=0;... |
GT:PL |
1/1:255,93,0 |
| 1317593 |
chr6 |
46705206 |
46705206 |
A |
G |
exonic |
PLA2G7 |
. |
nonsynonymous SNV |
PLA2G7:NM_001168357:exon11:c.T1136C:p.V379A,PL... |
22955 |
Asthma_and_atopy,_susceptibility_to|not_provided |
.|MedGen:CN517202 |
no_assertion_criteria_provided |
risk_factor |
1.0 |
196.00000 |
15 |
chr6 |
46705206 |
. |
A |
G |
196.00000 |
. |
DP=15;VDB=0.496021;SGB=-0.683931;MQSB=0.961166... |
GT:PL |
1/1:226,39,0 |
| 1317598 |
chr6 |
46711566 |
46711566 |
A |
G |
exonic |
PLA2G7 |
. |
nonsynonymous SNV |
PLA2G7:NM_001168357:exon7:c.T593C:p.I198T,PLA2... |
22954 |
Asthma_and_atopy,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
0.5 |
162.00000 |
26 |
chr6 |
46711566 |
. |
A |
G |
162.00000 |
. |
DP=26;VDB=0.742898;SGB=-0.689466;RPB=0.913799;... |
GT:PL |
0/1:195,0,126 |
| 1383813 |
chr6 |
102018522 |
102018522 |
C |
T |
intronic |
GRIK2 |
. |
. |
. |
247391 |
Lip_and_oral_cavity_carcinoma |
MedGen:C0220641 |
no_assertion_criteria_provided |
association |
1.0 |
211.00000 |
18 |
chr6 |
102018522 |
. |
C |
T |
211.00000 |
. |
DP=18;VDB=0.227482;SGB=-0.686358;MQSB=0.885987... |
GT:PL |
1/1:241,42,0 |
| 1421905 |
chr6 |
135105435 |
135105435 |
A |
G |
intergenic |
HBS1L,MYB |
dist=50537;dist=75880 |
. |
. |
136620 |
Fetal_hemoglobin_quantitative_trait_locus_2 |
Gene:7954,MedGen:C1840598,OMIM:142470 |
no_assertion_criteria_provided |
Likely_pathogenic |
0.5 |
87.00000 |
12 |
chr6 |
135105435 |
. |
A |
G |
87.00000 |
. |
DP=12;VDB=0.976304;SGB=-0.636426;RPB=0.838008;... |
GT:PL |
0/1:120,0,94 |
| 1435129 |
chr6 |
149400554 |
149400554 |
G |
A |
exonic |
SUMO4 |
. |
nonsynonymous SNV |
SUMO4:NM_001002255:exon1:c.G163A:p.V55M |
17101 |
Diabetes_mellitus,_insulin-dependent,_5 |
MedGen:C1838260,OMIM:600320 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
160.00000 |
33 |
chr6 |
149400554 |
. |
G |
A |
160.00000 |
. |
DP=33;VDB=0.388246;SGB=-0.690438;RPB=0.986948;... |
GT:PL |
0/1:193,0,165 |
| 1448466 |
chr6 |
159692840 |
159692840 |
A |
G |
exonic |
SOD2 |
. |
nonsynonymous SNV |
SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001... |
29790 |
SUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascu... |
.|MedGen:C2675128,OMIM:612634|MedGen:CN236517 |
reviewed_by_expert_panel |
drug_response |
0.5 |
167.00000 |
31 |
chr6 |
159692840 |
. |
A |
G |
167.00000 |
. |
DP=31;VDB=0.0918372;SGB=-0.689466;RPB=0.658229... |
GT:PL |
0/1:200,0,181 |
| 1449850 |
chr6 |
160706469 |
160706469 |
A |
G |
exonic |
PLG |
. |
nonsynonymous SNV |
PLG:NM_000301:exon2:c.A112G:p.K38E,PLG:NM_0011... |
28622 |
Plasminogen_deficiency,_type_I |
MedGen:C1968804,OMIM:217090,Orphanet:ORPHA722 |
criteria_provided,_multiple_submitters,_no_con... |
Pathogenic |
0.5 |
41.74550 |
26 |
chr6 |
160706469 |
. |
A |
G |
41.74550 |
. |
DP=26;VDB=0.791433;SGB=-0.651104;RPB=0.920218;... |
GT:PL |
0/1:75,0,184 |
| 1458947 |
chr6 |
166160758 |
166160758 |
G |
A |
intronic |
T |
. |
. |
. |
23220 |
Neural_tube_defects,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
1.0 |
217.00000 |
18 |
chr6 |
166160758 |
. |
G |
A |
217.00000 |
. |
DP=18;VDB=0.255643;SGB=-0.689466;MQSB=1;MQ0F=0... |
GT:PL |
1/1:247,48,0 |
| 1464923 |
chr6 |
169234915 |
169234915 |
G |
A |
ncRNA_intronic |
LOC101929523 |
. |
. |
. |
27752 |
Lumbar_disc_herniation,_susceptibility_to |
MedGen:C2676840 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
64.00000 |
17 |
chr6 |
169234915 |
. |
G |
A |
64.00000 |
. |
DP=17;VDB=0.4587;SGB=-0.616816;RPB=0.998265;MQ... |
GT:PL |
0/1:97,0,153 |
| 1514790 |
chr7 |
34778501 |
34778501 |
A |
T |
exonic |
NPSR1 |
. |
nonsynonymous SNV |
NPSR1:NM_001300933:exon3:c.A287T:p.N96I,NPSR1:... |
17231 |
Asthma-related_traits,_susceptibility_to,_2 |
MedGen:C1837811,OMIM:608584 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
112.00000 |
18 |
chr7 |
34778501 |
. |
A |
T |
112.00000 |
. |
DP=18;VDB=0.544568;SGB=-0.662043;RPB=0.210251;... |
GT:PL |
0/1:145,0,148 |
| 1575305 |
chr7 |
87509329 |
87509329 |
A |
G |
exonic |
ABCB1 |
. |
synonymous SNV |
ABCB1:NM_001348946:exon26:c.T3435C:p.I1145I,AB... |
227763 |
MDR1_POLYMORPHISM|Non-small_cell_lung_cancer|d... |
.|Human_Phenotype_Ontology:HP:0030358,MeSH:D00... |
reviewed_by_expert_panel |
drug_response |
0.5 |
124.00000 |
27 |
chr7 |
87509329 |
. |
A |
G |
124.00000 |
. |
DP=27;VDB=0.827881;SGB=-0.688148;RPB=0.562035;... |
GT:PL |
0/1:157,0,175 |
| 1575336 |
chr7 |
87531302 |
87531302 |
A |
C |
exonic |
ABCB1 |
. |
nonsynonymous SNV |
ABCB1:NM_001348946:exon21:c.T2677G:p.S893A,ABC... |
176988 |
not_specified|ondansetron_response_-_Efficacy|... |
MedGen:CN169374|MedGen:CN236569|MedGen:CN236582 |
reviewed_by_expert_panel |
drug_response |
1.0 |
225.00000 |
24 |
chr7 |
87531302 |
. |
A |
C |
225.00000 |
. |
DP=24;VDB=0.566267;SGB=-0.692831;MQSB=0.919431... |
GT:PL |
1/1:255,72,0 |
| 1581528 |
chr7 |
93426441 |
93426441 |
A |
G |
exonic |
CALCR |
. |
nonsynonymous SNV |
CALCR:NM_001164738:exon13:c.T1340C:p.L447P,CAL... |
32675 |
Bone_mineral_density_quantitative_trait_locus_15 |
MedGen:C3150680,OMIM:613418 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
108.00000 |
23 |
chr7 |
93426441 |
. |
A |
G |
108.00000 |
. |
DP=23;VDB=0.926917;SGB=-0.680642;RPB=0.936355;... |
GT:PL |
0/1:141,0,156 |
| 1587815 |
chr7 |
99784473 |
99784473 |
C |
T |
upstream |
CYP3A4 |
. |
. |
. |
31955 |
CYP3A4_PROMOTER_POLYMORPHISM|Cyp3a4-v|tacrolim... |
.|.|MedGen:CN236545 |
reviewed_by_expert_panel |
drug_response |
1.0 |
225.00000 |
28 |
chr7 |
99784473 |
. |
C |
T |
225.00000 |
. |
DP=28;VDB=0.170967;SGB=-0.692831;MQSB=0.973504... |
GT:PL |
1/1:255,72,0 |
| 1588318 |
chr7 |
100719675 |
100719675 |
C |
A |
intergenic |
POP7,EPO |
dist=12175;dist=1125 |
. |
. |
31641 |
Microvascular_complications_of_diabetes_2 |
MedGen:C2675471,OMIM:612623 |
no_assertion_criteria_provided |
risk_factor |
1.0 |
198.00000 |
19 |
chr7 |
100719675 |
. |
C |
A |
198.00000 |
. |
DP=19;VDB=0.556733;SGB=-0.689466;MQSB=1;MQ0F=0... |
GT:PL |
1/1:228,48,0 |
| 1618790 |
chr7 |
128949373 |
128949373 |
G |
A |
UTR3 |
IRF5 |
NM_001347928:c.*555G>A,NM_001242452:c.*555G>A,... |
. |
. |
18436 |
Systemic_lupus_erythematosus_10 |
MedGen:C2677097,OMIM:612251 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
111.00000 |
21 |
chr7 |
128949373 |
. |
G |
A |
111.00000 |
. |
DP=21;VDB=0.0241058;SGB=-0.662043;RPB=0.27848;... |
GT:PL |
0/1:144,0,172 |
| 1633910 |
chr7 |
141972804 |
141972804 |
T |
C |
exonic |
TAS2R38 |
. |
nonsynonymous SNV |
TAS2R38:NM_176817:exon1:c.A886G:p.I296V |
17945 |
Phenylthiocarbamide_tasting |
MedGen:C1868398 |
no_assertion_criteria_provided |
drug_response |
0.5 |
36.87490 |
26 |
chr7 |
141972804 |
. |
T |
C |
36.87490 |
. |
DP=26;VDB=0.215477;SGB=-0.662043;RPB=0.639909;... |
GT:PL |
0/1:70,0,189 |
| 1633912 |
chr7 |
141973545 |
141973545 |
C |
G |
exonic |
TAS2R38 |
. |
nonsynonymous SNV |
TAS2R38:NM_176817:exon1:c.G145C:p.A49P |
17943 |
Phenylthiocarbamide_tasting |
MedGen:C1868398 |
no_assertion_criteria_provided |
drug_response |
0.5 |
135.00000 |
21 |
chr7 |
141973545 |
. |
C |
G |
135.00000 |
. |
DP=21;VDB=0.105308;SGB=-0.676189;RPB=0.760829;... |
GT:PL |
0/1:168,0,151 |
| 1640327 |
chr7 |
146792514 |
146792514 |
A |
T |
intronic |
CNTNAP2 |
. |
. |
. |
20531 |
Autism_15 |
MedGen:C2677504,OMIM:612100 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
186.00000 |
30 |
chr7 |
146792514 |
. |
A |
T |
186.00000 |
. |
DP=30;VDB=0.113873;SGB=-0.691153;RPB=0.190745;... |
GT:PL |
0/1:219,0,146 |
| 1641820 |
chr7 |
147877298 |
147877298 |
A |
G |
intronic |
CNTNAP2 |
. |
. |
. |
20530 |
Autism_15 |
MedGen:C2677504,OMIM:612100 |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
29 |
chr7 |
147877298 |
. |
A |
G |
225.00000 |
. |
DP=29;VDB=0.00199182;SGB=-0.693054;MQSB=0.9495... |
GT:PL |
1/1:255,84,0 |
| 1685735 |
chr8 |
11748803 |
11748803 |
T |
C |
intronic |
GATA4 |
. |
. |
. |
426523 |
Congenital_heart_disease |
MedGen:C0152021,SNOMED_CT:13213009 |
no_assertion_criteria_provided |
Pathogenic |
1.0 |
225.00000 |
30 |
chr8 |
11748803 |
. |
T |
C |
225.00000 |
. |
DP=30;VDB=0.162103;SGB=-0.693054;MQSB=0.949591... |
GT:PL |
1/1:255,84,0 |
| 1685736 |
chr8 |
11748855 |
11748855 |
G |
C |
intronic |
GATA4 |
. |
. |
. |
426524 |
Congenital_heart_disease |
MedGen:C0152021,SNOMED_CT:13213009 |
no_assertion_criteria_provided |
Pathogenic |
1.0 |
225.00000 |
22 |
chr8 |
11748855 |
. |
G |
C |
225.00000 |
. |
DP=22;VDB=0.333593;SGB=-0.692562;MQSB=0.963419... |
GT:PL |
1/1:255,66,0 |
| 1685762 |
chr8 |
11758186 |
11758186 |
A |
G |
intronic |
GATA4 |
. |
. |
. |
426531 |
Congenital_heart_disease |
MedGen:C0152021,SNOMED_CT:13213009 |
no_assertion_criteria_provided |
Pathogenic |
1.0 |
225.00000 |
21 |
chr8 |
11758186 |
. |
A |
G |
225.00000 |
. |
DP=21;VDB=0.633915;SGB=-0.692067;MQSB=1;MQ0F=0... |
GT:PL |
1/1:255,60,0 |
| 1685769 |
chr8 |
11759731 |
11759731 |
A |
T |
UTR3 |
GATA4 |
NM_001308094:c.*1256A>T,NM_002052:c.*1256A>T,N... |
. |
. |
426534 |
Congenital_heart_disease |
MedGen:C0152021,SNOMED_CT:13213009 |
no_assertion_criteria_provided |
Pathogenic |
0.5 |
133.00000 |
28 |
chr8 |
11759731 |
. |
A |
T |
133.00000 |
. |
DP=28;VDB=0.696154;SGB=-0.680642;RPB=0.602729;... |
GT:PL |
0/1:166,0,186 |
| 1700181 |
chr8 |
18400344 |
18400344 |
T |
C |
exonic |
NAT2 |
. |
nonsynonymous SNV |
NAT2:NM_000015:exon2:c.T341C:p.I114T |
15762 |
Slow_acetylator_due_to_N-acetyltransferase_enz... |
MedGen:C1827377,OMIM:243400,SNOMED_CT:425079005 |
no_assertion_criteria_provided |
drug_response |
0.5 |
143.00000 |
23 |
chr8 |
18400344 |
. |
T |
C |
143.00000 |
. |
DP=23;VDB=0.511433;SGB=-0.688148;RPB=0.939778;... |
GT:PL |
0/1:176,0,100 |
| 1723712 |
chr8 |
37966280 |
37966280 |
A |
G |
exonic |
ADRB3 |
. |
nonsynonymous SNV |
ADRB3:NM_000025:exon1:c.T190C:p.W64R |
32780 |
Obesity |
MedGen:C0028754,OMIM:601665,Orphanet:ORPHA7152... |
no_assertion_criteria_provided |
risk_factor |
0.5 |
138.00000 |
30 |
chr8 |
37966280 |
. |
A |
G |
138.00000 |
. |
DP=30;VDB=0.860927;SGB=-0.691153;RPB=0.686212;... |
GT:PL |
0/1:171,0,164 |
| 1755195 |
chr8 |
68476982 |
68476982 |
C |
G |
intronic |
C8orf34 |
. |
. |
. |
227767 |
irinotecan_response_-_Toxicity/ADR |
MedGen:CN236598 |
reviewed_by_expert_panel |
drug_response |
1.0 |
209.00000 |
25 |
chr8 |
68476982 |
. |
C |
G |
209.00000 |
. |
DP=25;VDB=0.323572;SGB=-0.692831;MQSB=0.950498... |
GT:PL |
1/1:239,72,0 |
| 1824183 |
chr8 |
132865378 |
132865378 |
A |
G |
intergenic |
PHF20L1,TG |
dist=16571;dist=1582 |
. |
. |
38861 |
Autoimmune_thyroid_disease_3 |
MedGen:C1842444,OMIM:608175 |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
33 |
chr8 |
132865378 |
. |
A |
G |
225.00000 |
. |
DP=33;VDB=0.233982;SGB=-0.69311;MQSB=1;MQ0F=0;... |
GT:PL |
1/1:255,93,0 |
| 1925227 |
chr9 |
84286011 |
84286011 |
G |
A |
exonic |
SLC28A3 |
. |
synonymous SNV |
SLC28A3:NM_001199633:exon13:c.C1381T:p.L461L,S... |
362500 |
anthracyclines_and_related_substances_response... |
MedGen:CN236469 |
reviewed_by_expert_panel |
drug_response |
0.5 |
111.00000 |
24 |
chr9 |
84286011 |
. |
G |
A |
111.00000 |
. |
DP=24;VDB=0.976977;SGB=-0.670168;RPB=0.469541;... |
GT:PL |
0/1:144,0,192 |
| 2054372 |
chr10 |
49539493 |
49539493 |
G |
C |
UTR5 |
ERCC6 |
NM_001277059:c.-6529C>G |
. |
. |
16748 |
LUNG_CANCER,_SUSCEPTIBILITY_TO|Age-related_mac... |
.|MedGen:C3151063,OMIM:613761 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
166.00000 |
36 |
chr10 |
49539493 |
. |
G |
C |
166.00000 |
. |
DP=36;VDB=0.765708;SGB=-0.691153;RPB=0.826698;... |
GT:PL |
0/1:199,0,203 |
| 2082616 |
chr10 |
68882104 |
68882104 |
T |
C |
exonic |
STOX1 |
. |
nonsynonymous SNV |
STOX1:NM_001130159:exon2:c.T457C:p.Y153H,STOX1... |
16758 |
Preeclampsia/eclampsia_4 |
MedGen:C1836255,OMIM:609404 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
164.00000 |
32 |
chr10 |
68882104 |
. |
T |
C |
164.00000 |
. |
DP=32;VDB=0.199104;SGB=-0.689466;RPB=0.459485;... |
GT:PL |
0/1:197,0,188 |
| 2082620 |
chr10 |
68885620 |
68885620 |
A |
C |
exonic |
STOX1 |
. |
nonsynonymous SNV |
STOX1:NM_001130161:exon3:c.A1824C:p.E608D,STOX... |
16759 |
Preeclampsia/eclampsia_4 |
MedGen:C1836255,OMIM:609404 |
no_assertion_criteria_provided |
Pathogenic |
0.5 |
100.00000 |
31 |
chr10 |
68885620 |
. |
A |
C |
100.00000 |
. |
DP=31;VDB=0.266244;SGB=-0.683931;RPB=0.960189;... |
GT:PL |
0/1:133,0,210 |
| 2110142 |
chr10 |
94645745 |
94645745 |
G |
A |
intergenic |
HELLS,CYP2C18 |
dist=43646;dist=37749 |
. |
. |
227769 |
warfarin_response_-_Dosage |
MedGen:CN236549 |
reviewed_by_expert_panel |
drug_response |
0.5 |
157.00000 |
24 |
chr10 |
94645745 |
. |
G |
A |
157.00000 |
. |
DP=24;VDB=0.712673;SGB=-0.683931;RPB=0.769328;... |
GT:PL |
0/1:190,0,129 |
| 2110252 |
chr10 |
94781859 |
94781859 |
G |
A |
exonic |
CYP2C19 |
. |
synonymous SNV |
CYP2C19:NM_000769:exon5:c.G681A:p.P227P |
31936 |
Mephenytoin,_poor_metabolism_of|Proguanil,_poo... |
MedGen:C1836024|MedGen:C1836026|MedGen:C267494... |
reviewed_by_expert_panel |
drug_response |
0.5 |
163.00000 |
19 |
chr10 |
94781859 |
. |
G |
A |
163.00000 |
. |
DP=19;VDB=0.15791;SGB=-0.683931;RPB=0.329052;M... |
GT:PL |
0/1:197,0,54 |
| 2110451 |
chr10 |
94965778 |
94965778 |
A |
C |
intronic |
CYP2C9 |
. |
. |
. |
227772 |
warfarin_response_-_Dosage |
MedGen:CN236549 |
reviewed_by_expert_panel |
drug_response |
0.5 |
47.33180 |
15 |
chr10 |
94965778 |
. |
A |
C |
47.33180 |
. |
DP=15;VDB=0.258434;SGB=-0.616816;RPB=0.961166;... |
GT:PL |
0/1:80,0,107 |
| 2110564 |
chr10 |
95038992 |
95038992 |
T |
C |
exonic |
CYP2C8 |
. |
nonsynonymous SNV |
CYP2C8:NM_001198854:exon7:c.A890G:p.K297R,CYP2... |
362503 |
rosiglitazone_response_-_Dosage |
MedGen:CN240600 |
reviewed_by_expert_panel |
drug_response |
0.5 |
157.00000 |
28 |
chr10 |
95038992 |
. |
T |
C |
157.00000 |
. |
DP=28;VDB=0.443029;SGB=-0.686358;RPB=0.423873;... |
GT:PL |
0/1:190,0,177 |
| 2119114 |
chr10 |
103138228 |
103138228 |
T |
C |
intronic |
NT5C2 |
. |
. |
. |
227819 |
gemcitabine_response_-_Other |
MedGen:CN236594 |
reviewed_by_expert_panel |
drug_response |
0.5 |
146.00000 |
31 |
chr10 |
103138228 |
. |
T |
C |
146.00000 |
. |
DP=31;VDB=0.749699;SGB=-0.688148;RPB=0.759391;... |
GT:PL |
0/1:179,0,160 |
| 2130217 |
chr10 |
112998590 |
112998590 |
C |
T |
intronic |
TCF7L2 |
. |
. |
. |
22452 |
Diabetes_mellitus_type_2|sulfonamides,_urea_de... |
Human_Phenotype_Ontology:HP:0005978,MedGen:C00... |
reviewed_by_expert_panel |
drug_response |
1.0 |
225.00000 |
24 |
chr10 |
112998590 |
. |
C |
T |
225.00000 |
. |
DP=24;VDB=0.00348352;SGB=-0.692717;MQSB=1;MQ0F... |
GT:PL |
1/1:255,69,0 |
| 2130284 |
chr10 |
113047288 |
113047288 |
G |
C |
intronic |
TCF7L2 |
. |
. |
. |
22454 |
Diabetes_mellitus_type_2 |
Human_Phenotype_Ontology:HP:0005978,MedGen:C00... |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
24 |
chr10 |
113047288 |
. |
G |
C |
225.00000 |
. |
DP=24;VDB=0.35737;SGB=-0.692562;MQSB=1;MQ0F=0;... |
GT:PL |
1/1:255,66,0 |
| 2130286 |
chr10 |
113049143 |
113049143 |
G |
T |
intronic |
TCF7L2 |
. |
. |
. |
22453 |
Diabetes_mellitus_type_2 |
Human_Phenotype_Ontology:HP:0005978,MedGen:C00... |
no_assertion_criteria_provided |
risk_factor |
0.5 |
145.00000 |
29 |
chr10 |
113049143 |
. |
G |
T |
145.00000 |
. |
DP=29;VDB=0.0668687;SGB=-0.686358;RPB=0.252779... |
GT:PL |
0/1:178,0,194 |
| 2131540 |
chr10 |
114045297 |
114045297 |
G |
C |
exonic |
ADRB1 |
. |
nonsynonymous SNV |
ADRB1:NM_000684:exon1:c.G1165C:p.G389R |
32785 |
Congestive_heart_failure_and_beta-blocker_resp... |
MedGen:C2676080 |
no_assertion_criteria_provided |
drug_response |
1.0 |
222.00000 |
42 |
chr10 |
114045297 |
. |
G |
C |
222.00000 |
. |
DP=42;VDB=0.0257775;SGB=-0.693141;MQSB=1;MQ0F=... |
GT:PL |
1/1:252,111,0 |
| 2161507 |
chr10 |
133535040 |
133535040 |
T |
A |
intronic |
CYP2E1 |
. |
. |
. |
31927 |
CYP2E1*6_ALLELE |
. |
no_assertion_criteria_provided |
association |
0.5 |
96.00000 |
29 |
chr10 |
133535040 |
. |
T |
A |
96.00000 |
. |
DP=29;VDB=0.13679;SGB=-0.670168;RPB=0.998612;M... |
GT:PL |
0/1:129,0,210 |
| 2172869 |
chr11 |
6617154 |
6617154 |
C |
T |
splicing |
TPP1 |
NM_000391:exon6:c.509-1G>A |
. |
. |
202586 |
Neuronal_ceroid_lipofuscinosis|not_provided |
MedGen:C0027877,OMIM:214200,Orphanet:ORPHA216,... |
criteria_provided,_multiple_submitters,_no_con... |
Pathogenic |
0.5 |
125.00000 |
18 |
chr11 |
6617154 |
. |
C |
T |
125.00000 |
. |
DP=18;VDB=0.431004;SGB=-0.680642;RPB=0.893597;... |
GT:PL |
0/1:158,0,71 |
| 2188500 |
chr11 |
17276578 |
17276578 |
C |
G |
upstream |
NUCB2 |
. |
. |
. |
132617 |
not_provided |
MedGen:CN517202 |
no_assertion_criteria_provided |
Likely_pathogenic |
1.0 |
223.00000 |
29 |
chr11 |
17276578 |
. |
C |
G |
223.00000 |
. |
DP=29;VDB=0.54632;SGB=-0.693054;MQSB=0.962524;... |
GT:PL |
1/1:253,84,0 |
| 2214597 |
chr11 |
35222511 |
35222511 |
A |
G |
UTR3 |
CD44 |
NM_001202557:c.*133A>G |
. |
. |
132391 |
Calcium_oxalate_urolithiasis |
Human_Phenotype_Ontology:HP:0008672,MedGen:C18... |
no_assertion_criteria_provided |
association |
0.5 |
60.00000 |
29 |
chr11 |
35222511 |
. |
A |
G |
60.00000 |
. |
DP=29;VDB=0.245704;SGB=-0.670168;RPB=0.813576;... |
GT:PL |
0/1:93,0,219 |
| 2248912 |
chr11 |
67585218 |
67585218 |
A |
G |
exonic |
GSTP1 |
. |
nonsynonymous SNV |
GSTP1:NM_000852:exon5:c.A313G:p.I105V |
37785 |
Colorectal_Neoplasms|cyclophosphamide_and_epir... |
MeSH:D015179,MedGen:CN236642|MedGen:CN236473|M... |
reviewed_by_expert_panel |
drug_response |
0.5 |
85.00000 |
31 |
chr11 |
67585218 |
. |
A |
G |
85.00000 |
. |
DP=31;VDB=0.239887;SGB=-0.676189;RPB=0.766583;... |
GT:PL |
0/1:118,0,209 |
| 2250838 |
chr11 |
69078931 |
69078931 |
A |
T |
exonic |
TPCN2 |
. |
nonsynonymous SNV |
TPCN2:NM_139075:exon16:c.A1450T:p.M484L |
15766 |
Skin/hair/eye_pigmentation,_variation_in,_10 |
MedGen:C2677088,OMIM:612267 |
no_assertion_criteria_provided |
association |
0.5 |
123.00000 |
24 |
chr11 |
69078931 |
. |
A |
T |
123.00000 |
. |
DP=24;VDB=0.619273;SGB=-0.676189;RPB=0.872891;... |
GT:PL |
0/1:156,0,185 |
| 2250869 |
chr11 |
69087895 |
69087895 |
G |
A |
exonic |
TPCN2 |
. |
nonsynonymous SNV |
TPCN2:NM_139075:exon25:c.G2201A:p.G734E |
15767 |
Skin/hair/eye_pigmentation,_variation_in,_10 |
MedGen:C2677088,OMIM:612267 |
no_assertion_criteria_provided |
association |
0.5 |
125.00000 |
33 |
chr11 |
69087895 |
. |
G |
A |
125.00000 |
. |
DP=33;VDB=0.242177;SGB=-0.680642;RPB=0.999104;... |
GT:PL |
0/1:158,0,214 |
| 2251752 |
chr11 |
69648142 |
69648142 |
G |
A |
exonic |
CCND1 |
. |
synonymous SNV |
CCND1:NM_053056:exon4:c.G723A:p.P241P |
28794 |
VON_HIPPEL-LINDAU_SYNDROME,_MODIFIER_OF|Colore... |
.|MedGen:C1858438|MedGen:CN186214 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
158.00000 |
37 |
chr11 |
69648142 |
. |
G |
A |
158.00000 |
. |
DP=37;VDB=0.303795;SGB=-0.688148;RPB=0.646905;... |
GT:PL |
0/1:191,0,185 |
| 2256671 |
chr11 |
73983709 |
73983709 |
C |
T |
upstream |
UCP2 |
. |
. |
. |
22904 |
Body_mass_index_quantitative_trait_locus_4 |
MedGen:C1843898,OMIM:607447 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
134.00000 |
26 |
chr11 |
73983709 |
. |
C |
T |
134.00000 |
. |
DP=26;VDB=0.296582;SGB=-0.680642;RPB=0.836111;... |
GT:PL |
0/1:167,0,127 |
| 2293752 |
chr11 |
103547430 |
103547430 |
A |
G |
intergenic |
DYNC2H1,MIR4693 |
dist=67567;dist=302476 |
. |
. |
227832 |
Platinum_compounds_response_-_Toxicity/ADR|eto... |
MedGen:CN236514|MedGen:CN236591 |
reviewed_by_expert_panel |
drug_response |
1.0 |
223.00000 |
16 |
chr11 |
103547430 |
. |
A |
G |
223.00000 |
. |
DP=16;VDB=0.977732;SGB=-0.689466;MQSB=1;MQ0F=0... |
GT:PL |
1/1:253,48,0 |
| 2300430 |
chr11 |
108412434 |
108412434 |
C |
A |
intronic |
C11orf65 |
. |
. |
. |
227817 |
metformin_response_-_Efficacy |
MedGen:CN236564 |
reviewed_by_expert_panel |
drug_response |
0.5 |
120.00000 |
17 |
chr11 |
108412434 |
. |
C |
A |
120.00000 |
. |
DP=17;VDB=0.567736;SGB=-0.662043;RPB=0.539212;... |
GT:PL |
0/1:153,0,79 |
| 2305985 |
chr11 |
113400106 |
113400106 |
G |
A |
exonic |
ANKK1 |
. |
nonsynonymous SNV |
ANKK1:NM_178510:exon8:c.G2137A:p.E713K |
17144 |
Dopamine_receptor_d2,_reduced_brain_density_of... |
MedGen:C1837439|MedGen:CN169374|MedGen:CN23647... |
reviewed_by_expert_panel |
drug_response |
0.5 |
163.00000 |
27 |
chr11 |
113400106 |
. |
G |
A |
163.00000 |
. |
DP=27;VDB=0.508984;SGB=-0.686358;RPB=0.408943;... |
GT:PL |
0/1:196,0,141 |
| 2306013 |
chr11 |
113412966 |
113412966 |
C |
A |
intronic |
DRD2 |
. |
. |
. |
362504 |
Dystonia|cocaine_response_-_Toxicity/ADR |
Human_Phenotype_Ontology:HP:0001332,MedGen:C00... |
reviewed_by_expert_panel |
drug_response |
0.5 |
67.00000 |
22 |
chr11 |
113412966 |
. |
C |
A |
67.00000 |
. |
DP=22;VDB=0.787989;SGB=-0.636426;RPB=0.838107;... |
GT:PL |
0/1:100,0,181 |
| 2310222 |
chr11 |
116789970 |
116789970 |
G |
A |
UTR3 |
APOA5 |
NM_052968:c.*158C>T,NM_001166598:c.*158C>T |
. |
. |
132639 |
Hypertriglyceridemia,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
1.0 |
225.00000 |
29 |
chr11 |
116789970 |
. |
G |
A |
225.00000 |
. |
DP=29;VDB=0.99891;SGB=-0.693021;MQSB=1;MQ0F=0;... |
GT:PL |
1/1:255,81,0 |
| 2310277 |
chr11 |
116820918 |
116820918 |
C |
A |
exonic |
APOA4 |
. |
nonsynonymous SNV |
APOA4:NM_000482:exon3:c.G1140T:p.Q380H |
32944 |
APOLIPOPROTEIN_A-IV_POLYMORPHISM,_APOA4*1/APOA4*2 |
. |
no_assertion_criteria_provided |
Pathogenic |
0.5 |
144.00000 |
36 |
chr11 |
116820918 |
. |
C |
A |
144.00000 |
. |
DP=36;VDB=0.759018;SGB=-0.692067;RPB=0.99886;M... |
GT:PL |
0/1:177,0,190 |
| 2315156 |
chr11 |
120792654 |
120792654 |
T |
C |
intronic |
GRIK4 |
. |
. |
. |
227821 |
not_specified|antidepressants_response_-_Effic... |
MedGen:CN169374|MedGen:CN236478|MedGen:CN236503 |
reviewed_by_expert_panel |
drug_response |
1.0 |
225.00000 |
31 |
chr11 |
120792654 |
. |
T |
C |
225.00000 |
. |
DP=31;VDB=0.548775;SGB=-0.693097;MQSB=0.907761... |
GT:PL |
1/1:255,90,0 |
| 2364781 |
chr12 |
21178615 |
21178615 |
T |
C |
exonic |
SLCO1B1 |
. |
nonsynonymous SNV |
SLCO1B1:NM_006446:exon6:c.T521C:p.V174A |
40587 |
Rotor_syndrome|not_specified|cerivastatin_resp... |
MedGen:C0220991,OMIM:237450,Orphanet:ORPHA3111... |
reviewed_by_expert_panel |
drug_response |
0.5 |
62.00000 |
16 |
chr12 |
21178615 |
. |
T |
C |
62.00000 |
. |
DP=16;VDB=0.86799;SGB=-0.636426;RPB=0.507697;M... |
GT:PL |
0/1:95,0,150 |
| 2364878 |
chr12 |
21229685 |
21229685 |
T |
C |
intronic |
SLCO1B1 |
. |
. |
. |
362505 |
methotrexate_response_-_Toxicity/ADR |
MedGen:CN236607 |
reviewed_by_expert_panel |
drug_response |
0.5 |
115.00000 |
24 |
chr12 |
21229685 |
. |
T |
C |
115.00000 |
. |
DP=24;VDB=0.448353;SGB=-0.670168;RPB=0.731668;... |
GT:PL |
0/1:148,0,164 |
| 2400845 |
chr12 |
52433824 |
52433824 |
C |
T |
exonic |
KRT75 |
. |
nonsynonymous SNV |
KRT75:NM_004693:exon1:c.G481A:p.A161T |
16930 |
Pseudofolliculitis_barbae,_susceptibility_to|n... |
.|MedGen:CN517202 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
71.00000 |
32 |
chr12 |
52433824 |
. |
C |
T |
71.00000 |
. |
DP=32;VDB=0.951383;SGB=-0.686358;RPB=0.790382;... |
GT:PL |
0/1:104,0,139 |
| 2455842 |
chr12 |
102840474 |
102840474 |
T |
C |
exonic |
PAH |
. |
nonsynonymous SNV |
PAH:NM_000277:exon12:c.A1241G:p.Y414C |
15632 |
Hyperphenylalaninemia,_non-pku|Phenylketonuria... |
Human_Phenotype_Ontology:HP:0004923,MedGen:C07... |
criteria_provided,_multiple_submitters,_no_con... |
Pathogenic |
0.5 |
146.00000 |
34 |
chr12 |
102840474 |
. |
T |
C |
146.00000 |
. |
DP=34;VDB=0.637461;SGB=-0.686358;RPB=0.488748;... |
GT:PL |
0/1:179,0,207 |
| 2538111 |
chr13 |
46837850 |
46837850 |
A |
G |
intronic |
HTR2A |
. |
. |
. |
227777 |
Major_depressive_disorder,_response_to_citalop... |
MedGen:C4016374|MedGen:CN169374|MedGen:CN23647... |
reviewed_by_expert_panel |
drug_response |
1.0 |
225.00000 |
21 |
chr13 |
46837850 |
. |
A |
G |
225.00000 |
. |
DP=21;VDB=0.432984;SGB=-0.692352;MQSB=1;MQ0F=0... |
GT:PL |
1/1:255,63,0 |
| 2603031 |
chr13 |
95062722 |
95062722 |
C |
T |
exonic |
ABCC4 |
. |
synonymous SNV |
ABCC4:NM_001301829:exon25:c.G3207A:p.K1069K,AB... |
227778 |
tenofovir_response_- |
MedGen:CN236623 |
reviewed_by_expert_panel |
drug_response |
1.0 |
216.00000 |
20 |
chr13 |
95062722 |
. |
C |
T |
216.00000 |
. |
DP=20;VDB=0.801855;SGB=-0.691153;MQSB=1;MQ0F=0... |
GT:PL |
1/1:246,54,0 |
| 2624909 |
chr13 |
109782884 |
109782884 |
C |
T |
exonic |
IRS2 |
. |
nonsynonymous SNV |
IRS2:NM_003749:exon1:c.G3170A:p.G1057D |
23859 |
DIABETES,_TYPE_II,_SUSCEPTIBILITY_TO |
. |
no_assertion_criteria_provided |
risk_factor |
0.5 |
194.00000 |
33 |
chr13 |
109782884 |
. |
C |
T |
194.00000 |
. |
DP=33;VDB=0.524808;SGB=-0.692067;RPB=0.562066;... |
GT:PL |
0/1:227,0,142 |
| 2719596 |
chr14 |
92307319 |
92307319 |
G |
T |
intergenic |
CPSF2,SLC24A4 |
dist=143120;dist=15262 |
. |
. |
16459 |
Skin/hair/eye_pigmentation,_variation_in,_6 |
MedGen:C2673866,OMIM:210750 |
no_assertion_criteria_provided |
association |
1.0 |
225.00000 |
24 |
chr14 |
92307319 |
. |
G |
T |
225.00000 |
. |
DP=24;VDB=0.741225;SGB=-0.692562;MQSB=1;MQ0F=0... |
GT:PL |
1/1:255,66,0 |
| 2734654 |
chr14 |
103699416 |
103699416 |
G |
A |
exonic |
XRCC3 |
. |
nonsynonymous SNV |
XRCC3:NM_001100118:exon7:c.C722T:p.T241M,XRCC3... |
23983 |
Cutaneous_malignant_melanoma_6 |
MedGen:C3151417,OMIM:613972 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
120.00000 |
24 |
chr14 |
103699416 |
. |
G |
A |
120.00000 |
. |
DP=24;VDB=0.890185;SGB=-0.680642;RPB=0.541379;... |
GT:PL |
0/1:153,0,127 |
| 2748500 |
chr15 |
28120472 |
28120472 |
A |
G |
intronic |
HERC2 |
. |
. |
. |
19784 |
Skin/hair/eye_pigmentation,_variation_in,_1 |
MedGen:C1856895,OMIM:227220 |
no_assertion_criteria_provided |
association |
1.0 |
220.00000 |
22 |
chr15 |
28120472 |
. |
A |
G |
220.00000 |
. |
DP=22;VDB=0.932335;SGB=-0.692067;MQSB=1;MQ0F=0... |
GT:PL |
1/1:250,60,0 |
| 2748560 |
chr15 |
28285036 |
28285036 |
C |
T |
intronic |
HERC2 |
. |
. |
. |
19782 |
Skin/hair/eye_pigmentation,_variation_in,_1 |
MedGen:C1856895,OMIM:227220 |
no_assertion_criteria_provided |
association |
1.0 |
90.00000 |
5 |
chr15 |
28285036 |
. |
C |
T |
90.00000 |
. |
DP=5;VDB=0.623223;SGB=-0.590765;MQSB=1;MQ0F=0;... |
GT:PL |
1/1:120,15,0 |
| 2791379 |
chr15 |
65201874 |
65201874 |
A |
G |
exonic |
CILP |
. |
nonsynonymous SNV |
CILP:NM_003613:exon8:c.T1184C:p.I395T |
21351 |
Lumbar_disc_disease,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
0.5 |
71.00000 |
18 |
chr15 |
65201874 |
. |
A |
G |
71.00000 |
. |
DP=18;VDB=0.808291;SGB=-0.636426;RPB=0.95083;M... |
GT:PL |
0/1:104,0,122 |
| 2801868 |
chr15 |
73927205 |
73927205 |
G |
T |
exonic |
LOXL1 |
. |
nonsynonymous SNV |
LOXL1:NM_005576:exon1:c.G422T:p.R141L |
29399 |
Exfoliation_syndrome,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
0.5 |
111.00000 |
24 |
chr15 |
73927205 |
. |
G |
T |
111.00000 |
. |
DP=24;VDB=0.798199;SGB=-0.670168;RPB=0.224955;... |
GT:PL |
0/1:144,0,141 |
| 2801872 |
chr15 |
73929861 |
73929861 |
T |
C |
intronic |
LOXL1 |
. |
. |
. |
29401 |
Exfoliation_syndrome,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
0.5 |
178.00000 |
36 |
chr15 |
73929861 |
. |
T |
C |
178.00000 |
. |
DP=36;VDB=0.241952;SGB=-0.692067;RPB=0.58632;M... |
GT:PL |
0/1:211,0,186 |
| 2805998 |
chr15 |
78590583 |
78590583 |
G |
A |
exonic |
CHRNA5 |
. |
nonsynonymous SNV |
CHRNA5:NM_000745:exon5:c.G1192A:p.D398N |
32536 |
Lung_cancer_susceptibility_2|Smoking_as_a_quan... |
MedGen:C2677571|MedGen:C3150168,OMIM:612052 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
102.00000 |
13 |
chr15 |
78590583 |
. |
G |
A |
102.00000 |
. |
DP=13;VDB=0.215483;SGB=-0.651104;RPB=0.908075;... |
GT:PL |
0/1:135,0,69 |
| 2806007 |
chr15 |
78596058 |
78596058 |
G |
A |
UTR3 |
CHRNA3 |
NM_000743:c.*546C>T |
. |
. |
362506 |
nicotine_response_-_Toxicity/ADR,_Metabolism/PK |
MedGen:CN240606 |
reviewed_by_expert_panel |
drug_response |
0.5 |
141.00000 |
28 |
chr15 |
78596058 |
. |
G |
A |
141.00000 |
. |
DP=28;VDB=0.248649;SGB=-0.683931;RPB=0.0343898... |
GT:PL |
0/1:174,0,173 |
| 2806011 |
chr15 |
78601997 |
78601997 |
G |
A |
exonic |
CHRNA3 |
. |
synonymous SNV |
CHRNA3:NM_000743:exon5:c.C645T:p.Y215Y,CHRNA3:... |
32542 |
Lung_cancer_susceptibility_2|Smoking_as_a_quan... |
MedGen:C2677571|MedGen:C3150168,OMIM:612052|Me... |
reviewed_by_expert_panel |
drug_response |
0.5 |
158.00000 |
27 |
chr15 |
78601997 |
. |
G |
A |
158.00000 |
. |
DP=27;VDB=0.111591;SGB=-0.688148;RPB=0.576778;... |
GT:PL |
0/1:191,0,160 |
| 2863126 |
chr16 |
16089188 |
16089188 |
G |
A |
intronic |
ABCC1 |
. |
. |
. |
132375 |
Familial_cancer_of_breast |
MedGen:C0346153,OMIM:114480,Orphanet:ORPHA2275... |
no_assertion_criteria_provided |
association |
1.0 |
225.00000 |
34 |
chr16 |
16089188 |
. |
G |
A |
225.00000 |
. |
DP=34;VDB=0.610838;SGB=-0.69312;MQSB=1;MQ0F=0;... |
GT:PL |
1/1:255,96,0 |
| 2863209 |
chr16 |
16150116 |
16150116 |
C |
T |
UTR3 |
ABCC6 |
NM_001171:c.*17G>A |
. |
. |
426779 |
Pseudoxanthoma_elasticum |
MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,... |
criteria_provided,_single_submitter |
Pathogenic |
0.5 |
138.00000 |
25 |
chr16 |
16150116 |
. |
C |
T |
138.00000 |
. |
DP=25;VDB=0.577602;SGB=-0.686358;RPB=1;MQB=1;M... |
GT:PL |
0/1:171,0,84 |
| 2863217 |
chr16 |
16157742 |
16157742 |
C |
T |
exonic |
ABCC6 |
. |
nonsynonymous SNV |
ABCC6:NM_001171:exon27:c.G3803A:p.R1268Q |
21609 |
Pseudoxanthoma_elasticum|not_provided |
MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,... |
criteria_provided,_single_submitter |
Pathogenic |
0.5 |
185.00000 |
31 |
chr16 |
16157742 |
. |
C |
T |
185.00000 |
. |
DP=31;VDB=0.498545;SGB=-0.692562;RPB=0.187748;... |
GT:PL |
0/1:219,0,71 |
| 2863288 |
chr16 |
16185006 |
16185006 |
G |
T |
exonic |
ABCC6 |
. |
nonsynonymous SNV |
ABCC6:NM_001171:exon15:c.C1896A:p.H632Q |
426987 |
Pseudoxanthoma_elasticum |
MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,... |
criteria_provided,_single_submitter |
Pathogenic |
0.5 |
172.00000 |
36 |
chr16 |
16185006 |
. |
G |
T |
172.00000 |
. |
DP=36;VDB=0.468417;SGB=-0.690438;RPB=0.50373;M... |
GT:PL |
0/1:205,0,192 |
| 2863289 |
chr16 |
16185012 |
16185012 |
G |
C |
exonic |
ABCC6 |
. |
synonymous SNV |
ABCC6:NM_001171:exon15:c.C1890G:p.T630T |
426988 |
Pseudoxanthoma_elasticum |
MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,... |
no_assertion_criteria_provided |
Pathogenic |
0.5 |
130.00000 |
36 |
chr16 |
16185012 |
. |
G |
C |
130.00000 |
. |
DP=36;VDB=0.467196;SGB=-0.691153;RPB=0.983659;... |
GT:PL |
0/1:163,0,200 |
| 2863300 |
chr16 |
16187150 |
16187150 |
A |
G |
exonic |
ABCC6 |
. |
nonsynonymous SNV |
ABCC6:NM_001171:exon14:c.T1841C:p.V614A |
426990 |
Pseudoxanthoma_elasticum |
MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,... |
criteria_provided,_single_submitter |
Pathogenic |
0.5 |
205.00000 |
36 |
chr16 |
16187150 |
. |
A |
G |
205.00000 |
. |
DP=36;VDB=0.448307;SGB=-0.692976;RPB=0.804024;... |
GT:PL |
0/1:239,0,104 |
| 2863335 |
chr16 |
16198001 |
16198001 |
G |
C |
intronic |
ABCC6 |
. |
. |
. |
427023 |
Pseudoxanthoma_elasticum |
MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,... |
no_assertion_criteria_provided |
Pathogenic |
0.5 |
123.00000 |
21 |
chr16 |
16198001 |
. |
G |
C |
123.00000 |
. |
DP=21;VDB=0.867225;SGB=-0.676189;RPB=0.661993;... |
GT:PL |
0/1:156,0,104 |
| 2863336 |
chr16 |
16198014 |
16198014 |
G |
C |
intronic |
ABCC6 |
. |
. |
. |
427024 |
Pseudoxanthoma_elasticum |
MedGen:C0033847,OMIM:264800,Orphanet:ORPHA758,... |
no_assertion_criteria_provided |
Pathogenic |
0.5 |
132.00000 |
25 |
chr16 |
16198014 |
. |
G |
C |
132.00000 |
. |
DP=25;VDB=0.147066;SGB=-0.686358;RPB=0.892142;... |
GT:PL |
0/1:165,0,113 |
| 2874833 |
chr16 |
27363079 |
27363079 |
A |
G |
exonic |
IL4R |
. |
nonsynonymous SNV |
IL4R:NM_001257406:exon10:c.A1727G:p.Q576R,IL4R... |
29704 |
Atopy,_susceptibility_to |
MedGen:C1840254 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
74.00000 |
30 |
chr16 |
27363079 |
. |
A |
G |
74.00000 |
. |
DP=30;VDB=0.772968;SGB=-0.670168;RPB=0.665848;... |
GT:PL |
0/1:107,0,211 |
| 2876993 |
chr16 |
31092475 |
31092475 |
A |
G |
intronic |
VKORC1 |
. |
. |
. |
227784 |
warfarin_response_-_Dosage |
MedGen:CN236549 |
reviewed_by_expert_panel |
drug_response |
0.5 |
109.00000 |
31 |
chr16 |
31092475 |
. |
A |
G |
109.00000 |
. |
DP=31;VDB=0.464484;SGB=-0.69168;RPB=0.965852;M... |
GT:PL |
0/1:142,0,153 |
| 2876994 |
chr16 |
31093188 |
31093188 |
C |
G |
intronic |
VKORC1 |
. |
. |
. |
227785 |
not_specified|warfarin_response_-_Dosage |
MedGen:CN169374|MedGen:CN236549 |
reviewed_by_expert_panel |
drug_response |
0.5 |
102.00000 |
30 |
chr16 |
31093188 |
. |
C |
G |
102.00000 |
. |
DP=30;VDB=0.0173857;SGB=-0.683931;RPB=0.063789... |
GT:PL |
0/1:135,0,169 |
| 2876995 |
chr16 |
31093557 |
31093557 |
G |
A |
intronic |
VKORC1 |
. |
. |
. |
38302 |
Warfarin_response|not_specified|acenocoumarol_... |
MedGen:CN078029,OMIM:122700|MedGen:CN169374|Me... |
reviewed_by_expert_panel |
drug_response |
0.5 |
106.00000 |
23 |
chr16 |
31093557 |
. |
G |
A |
106.00000 |
. |
DP=23;VDB=0.719467;SGB=-0.662043;RPB=0.975987;... |
GT:PL |
0/1:139,0,197 |
| 2876996 |
chr16 |
31094032 |
31094032 |
G |
A |
intronic |
VKORC1 |
. |
. |
. |
227786 |
warfarin_response_-_Dosage |
MedGen:CN236549 |
reviewed_by_expert_panel |
drug_response |
0.5 |
198.00000 |
44 |
chr16 |
31094032 |
. |
G |
A |
198.00000 |
. |
DP=44;VDB=0.11791;SGB=-0.692717;RPB=0.174694;M... |
GT:PL |
0/1:231,0,193 |
| 2885226 |
chr16 |
53767042 |
53767042 |
T |
C |
intronic |
FTO |
. |
. |
. |
214481 |
OBESITY_(BMIQ14),_SUSCEPTIBILITY_TO |
. |
no_assertion_criteria_provided |
risk_factor |
1.0 |
174.00000 |
13 |
chr16 |
53767042 |
. |
T |
C |
174.00000 |
. |
DP=13;VDB=0.162805;SGB=-0.683931;MQSB=1;MQ0F=0... |
GT:PL |
1/1:204,39,0 |
| 2890242 |
chr16 |
56971567 |
56971567 |
C |
A |
intronic |
CETP |
. |
. |
. |
227788 |
HMG_CoA_reductase_inhibitors_response_-_Efficacy |
MedGen:CN236511 |
reviewed_by_expert_panel |
drug_response |
0.5 |
161.00000 |
23 |
chr16 |
56971567 |
. |
C |
A |
161.00000 |
. |
DP=23;VDB=0.242693;SGB=-0.686358;RPB=0.592107;... |
GT:PL |
0/1:194,0,123 |
| 2902522 |
chr16 |
68737131 |
68737131 |
C |
A |
upstream |
CDH1 |
. |
. |
. |
27286 |
Prostate_cancer,_susceptibility_to |
. |
no_assertion_criteria_provided |
risk_factor |
0.5 |
159.00000 |
32 |
chr16 |
68737131 |
. |
C |
A |
159.00000 |
. |
DP=32;VDB=0.0709305;SGB=-0.688148;RPB=0.079982... |
GT:PL |
0/1:192,0,185 |
| 2902768 |
chr16 |
69109674 |
69109674 |
A |
G |
exonic |
HAS3 |
. |
synonymous SNV |
HAS3:NM_001199280:exon2:c.A279G:p.A93A,HAS3:NM... |
227789 |
anthracyclines_and_related_substances_response... |
MedGen:CN236469 |
reviewed_by_expert_panel |
drug_response |
0.5 |
82.00000 |
39 |
chr16 |
69109674 |
. |
A |
G |
82.00000 |
. |
DP=39;VDB=0.197212;SGB=-0.689466;RPB=0.621287;... |
GT:PL |
0/1:115,0,224 |
| 2945116 |
chr17 |
4933086 |
4933086 |
C |
T |
exonic |
GP1BA |
. |
nonsynonymous SNV |
GP1BA:NM_000173:exon2:c.C482T:p.T161M |
227792 |
not_specified|aspirin_response_-_Efficacy |
MedGen:CN169374|MedGen:CN236481 |
reviewed_by_expert_panel |
drug_response |
0.5 |
76.00000 |
22 |
chr17 |
4933086 |
. |
C |
T |
76.00000 |
. |
DP=22;VDB=0.0377075;SGB=-0.651104;RPB=0.048867... |
GT:PL |
0/1:109,0,147 |
| 2948694 |
chr17 |
7676154 |
7676154 |
G |
C |
exonic |
TP53 |
. |
nonsynonymous SNV |
TP53:NM_001126118:exon3:c.C98G:p.P33R,TP53:NM_... |
27390 |
CODON_72_POLYMORPHISM,_(rs1042522)|Li-Fraumeni... |
.|Gene:553989,MedGen:C1835398,OMIM:151623|MedG... |
reviewed_by_expert_panel |
drug_response |
0.5 |
59.00000 |
22 |
chr17 |
7676154 |
. |
G |
C |
59.00000 |
. |
DP=22;VDB=0.325119;SGB=-0.651104;RPB=0.291667;... |
GT:PL |
0/1:92,0,179 |
| 2962313 |
chr17 |
19716685 |
19716685 |
G |
A |
UTR5 |
SLC47A2 |
NM_001256663:c.-130C>T,NM_152908:c.-130C>T,NM_... |
. |
. |
227790 |
metformin_response_-_Efficacy |
MedGen:CN236564 |
reviewed_by_expert_panel |
drug_response |
1.0 |
225.00000 |
32 |
chr17 |
19716685 |
. |
G |
A |
225.00000 |
. |
DP=32;VDB=0.52183;SGB=-0.693097;MQSB=0.972375;... |
GT:PL |
1/1:255,90,0 |
| 3093291 |
chr18 |
58149559 |
58149559 |
G |
A |
exonic |
NEDD4L |
. |
synonymous SNV |
NEDD4L:NM_001144968:exon1:c.G24A:p.Q8Q,NEDD4L:... |
227795 |
diuretics_response_-_Efficacy|hydrochlorothiaz... |
MedGen:CN236526|MedGen:CN236559 |
reviewed_by_expert_panel |
drug_response |
0.5 |
168.00000 |
30 |
chr18 |
58149559 |
. |
G |
A |
168.00000 |
. |
DP=30;VDB=0.0131668;SGB=-0.688148;RPB=0.321882... |
GT:PL |
0/1:201,0,183 |
| 3096393 |
chr18 |
60183864 |
60183864 |
T |
C |
intergenic |
PMAIP1,MC4R |
dist=279558;dist=187467 |
. |
. |
227796 |
antipsychotics_response_-_Toxicity/ADR |
MedGen:CN236479 |
reviewed_by_expert_panel |
drug_response |
0.5 |
120.00000 |
23 |
chr18 |
60183864 |
. |
T |
C |
120.00000 |
. |
DP=23;VDB=0.916089;SGB=-0.683931;RPB=0.851213;... |
GT:PL |
0/1:153,0,138 |
| 3096440 |
chr18 |
60215554 |
60215554 |
C |
A |
intergenic |
PMAIP1,MC4R |
dist=311248;dist=155777 |
. |
. |
227797 |
amisulpride_response_-_Toxicity/ADR|aripiprazo... |
MedGen:CN236465|MedGen:CN236480|MedGen:CN23651... |
reviewed_by_expert_panel |
drug_response |
1.0 |
225.00000 |
37 |
chr18 |
60215554 |
. |
C |
A |
225.00000 |
. |
DP=37;VDB=0.703158;SGB=-0.693132;MQSB=1;MQ0F=0... |
GT:PL |
1/1:255,102,0 |
| 3142838 |
chr19 |
10107354 |
10107354 |
C |
T |
intronic |
PPAN,PPAN-P2RY11 |
. |
. |
. |
178886 |
Cataplexy_and_narcolepsy |
MedGen:C0751362,Orphanet:ORPHA2073,SNOMED_CT:1... |
no_assertion_criteria_provided |
association |
0.5 |
91.00000 |
31 |
chr19 |
10107354 |
. |
C |
T |
91.00000 |
. |
DP=31;VDB=0.414348;SGB=-0.670168;RPB=0.623553;... |
GT:PL |
0/1:124,0,221 |
| 3142844 |
chr19 |
10111519 |
10111519 |
A |
G |
UTR3 |
PPAN |
NM_020230:c.*354A>G,NM_001346140:c.*354A>G,NM_... |
. |
. |
178887 |
Cataplexy_and_narcolepsy |
MedGen:C0751362,Orphanet:ORPHA2073,SNOMED_CT:1... |
no_assertion_criteria_provided |
association |
0.5 |
73.00000 |
19 |
chr19 |
10111519 |
. |
A |
G |
73.00000 |
. |
DP=19;VDB=0.669846;SGB=-0.662043;RPB=0.668089;... |
GT:PL |
0/1:106,0,158 |
| 3142851 |
chr19 |
10115376 |
10115376 |
G |
A |
UTR3 |
P2RY11,PPAN-P2RY11 |
NM_002566:c.*638G>A;NM_001198690:c.*1522G>A,NM... |
. |
. |
178888 |
Cataplexy_and_narcolepsy |
MedGen:C0751362,Orphanet:ORPHA2073,SNOMED_CT:1... |
no_assertion_criteria_provided |
association |
0.5 |
154.00000 |
35 |
chr19 |
10115376 |
. |
G |
A |
154.00000 |
. |
DP=35;VDB=0.0649779;SGB=-0.688148;RPB=0.503987... |
GT:PL |
0/1:187,0,169 |
| 3142854 |
chr19 |
10116334 |
10116334 |
A |
G |
intronic |
EIF3G |
. |
. |
. |
178889 |
Cataplexy_and_narcolepsy |
MedGen:C0751362,Orphanet:ORPHA2073,SNOMED_CT:1... |
no_assertion_criteria_provided |
association |
0.5 |
106.00000 |
27 |
chr19 |
10116334 |
. |
A |
G |
106.00000 |
. |
DP=27;VDB=0.0158646;SGB=-0.680642;RPB=0.367442... |
GT:PL |
0/1:139,0,197 |
| 3145034 |
chr19 |
12896644 |
12896644 |
C |
T |
intronic |
GCDH |
. |
. |
. |
223593 |
Glutaric_aciduria,_type_1 |
MedGen:C0268595,OMIM:231670,Orphanet:ORPHA25,S... |
no_assertion_criteria_provided |
Likely_pathogenic |
0.5 |
148.00000 |
26 |
chr19 |
12896644 |
. |
C |
T |
148.00000 |
. |
DP=26;VDB=0.436745;SGB=-0.683931;RPB=0.849513;... |
GT:PL |
0/1:181,0,171 |
| 3149956 |
chr19 |
17203024 |
17203024 |
G |
A |
intronic |
MYO9B |
. |
. |
. |
22560 |
Celiac_disease_4 |
MedGen:C1857847,OMIM:609753 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
158.00000 |
32 |
chr19 |
17203024 |
. |
G |
A |
158.00000 |
. |
DP=32;VDB=0.903899;SGB=-0.688148;RPB=0.99688;M... |
GT:PL |
0/1:191,0,173 |
| 3178270 |
chr19 |
41006887 |
41006887 |
C |
T |
intronic |
CYP2B6 |
. |
. |
. |
227803 |
efavirenz_response_-_Metabolism/PK |
MedGen:CN236550 |
reviewed_by_expert_panel |
drug_response |
0.5 |
93.00000 |
13 |
chr19 |
41006887 |
. |
C |
T |
93.00000 |
. |
DP=13;VDB=0.594311;SGB=-0.651104;RPB=0.679965;... |
GT:PL |
0/1:126,0,49 |
| 3178272 |
chr19 |
41009797 |
41009797 |
T |
C |
intronic |
CYP2B6 |
. |
. |
. |
362510 |
efavirenz_response_-_Metabolism/PK |
MedGen:CN236550 |
reviewed_by_expert_panel |
drug_response |
0.5 |
38.08650 |
11 |
chr19 |
41009797 |
. |
T |
C |
38.08650 |
. |
DP=11;VDB=0.43429;SGB=-0.556411;RPB=0.924449;M... |
GT:PL |
0/1:71,0,131 |
| 3180013 |
chr19 |
43551574 |
43551574 |
T |
C |
exonic |
XRCC1 |
. |
nonsynonymous SNV |
XRCC1:NM_006297:exon10:c.A1196G:p.Q399R |
227806 |
carboplatin_response_-_Efficacy,_Toxicity/ADR|... |
MedGen:CN236496|MedGen:CN236501|MedGen:CN23651... |
reviewed_by_expert_panel |
drug_response |
0.5 |
154.00000 |
33 |
chr19 |
43551574 |
. |
T |
C |
154.00000 |
. |
DP=33;VDB=0.127409;SGB=-0.692067;RPB=0.803979;... |
GT:PL |
0/1:187,0,130 |
| 3182355 |
chr19 |
45420395 |
45420395 |
A |
G |
exonic |
ERCC1 |
. |
synonymous SNV |
ERCC1:NM_202001:exon3:c.T354C:p.N118N,ERCC1:NM... |
227808 |
Xeroderma_pigmentosum|carboplatin_response_-_E... |
MedGen:C0043346,Orphanet:ORPHA910,SNOMED_CT:44... |
reviewed_by_expert_panel |
drug_response |
0.5 |
132.00000 |
37 |
chr19 |
45420395 |
. |
A |
G |
132.00000 |
. |
DP=37;VDB=0.952343;SGB=-0.69168;RPB=0.403803;M... |
GT:PL |
0/1:165,0,191 |
| 3211187 |
chr20 |
7912993 |
7912993 |
A |
G |
intronic |
HAO1 |
. |
. |
. |
132396 |
Calcium_oxalate_urolithiasis |
Human_Phenotype_Ontology:HP:0008672,MedGen:C18... |
no_assertion_criteria_provided |
association |
0.5 |
84.00000 |
16 |
chr20 |
7912993 |
. |
A |
G |
84.00000 |
. |
DP=16;VDB=0.301859;SGB=-0.651104;RPB=0.951579;... |
GT:PL |
0/1:117,0,134 |
| 3211194 |
chr20 |
7916402 |
7916402 |
C |
T |
intronic |
HAO1 |
. |
. |
. |
132397 |
Calcium_oxalate_urolithiasis |
Human_Phenotype_Ontology:HP:0008672,MedGen:C18... |
no_assertion_criteria_provided |
association |
0.5 |
145.00000 |
30 |
chr20 |
7916402 |
. |
C |
T |
145.00000 |
. |
DP=30;VDB=0.355613;SGB=-0.688148;RPB=0.874233;... |
GT:PL |
0/1:178,0,184 |
| 3211217 |
chr20 |
7926296 |
7926296 |
G |
A |
intronic |
HAO1 |
. |
. |
. |
132399 |
Calcium_oxalate_urolithiasis |
Human_Phenotype_Ontology:HP:0008672,MedGen:C18... |
no_assertion_criteria_provided |
association |
0.5 |
136.00000 |
26 |
chr20 |
7926296 |
. |
G |
A |
136.00000 |
. |
DP=26;VDB=0.60155;SGB=-0.680642;RPB=0.909669;M... |
GT:PL |
0/1:169,0,135 |
| 3211230 |
chr20 |
7939957 |
7939957 |
A |
G |
intronic |
HAO1 |
. |
. |
. |
132402 |
Calcium_oxalate_urolithiasis |
Human_Phenotype_Ontology:HP:0008672,MedGen:C18... |
no_assertion_criteria_provided |
association |
0.5 |
54.00000 |
22 |
chr20 |
7939957 |
. |
A |
G |
54.00000 |
. |
DP=22;VDB=0.533284;SGB=-0.651104;RPB=0.393893;... |
GT:PL |
0/1:87,0,188 |
| 3251877 |
chr20 |
45919554 |
45919554 |
C |
T |
intergenic |
PLTP,PCIF1 |
dist=7190;dist=15124 |
. |
. |
28673 |
High_density_lipoprotein_cholesterol_level_qua... |
MedGen:C1969386 |
no_assertion_criteria_provided |
association |
0.5 |
120.00000 |
29 |
chr20 |
45919554 |
. |
C |
T |
120.00000 |
. |
DP=29;VDB=0.00630444;SGB=-0.676189;RPB=0.62941... |
GT:PL |
0/1:153,0,204 |
| 3276868 |
chr20 |
63790269 |
63790269 |
A |
G |
exonic |
ZBTB46 |
. |
synonymous SNV |
ZBTB46:NM_025224:exon2:c.T489C:p.A163A |
362292 |
Chronic_osteomyelitis |
MedGen:C0008707 |
no_assertion_criteria_provided |
association |
0.5 |
88.00000 |
27 |
chr20 |
63790269 |
. |
A |
G |
88.00000 |
. |
DP=27;VDB=0.269244;SGB=-0.680642;RPB=0.917583;... |
GT:PL |
0/1:121,0,192 |
| 3308921 |
chr21 |
33241945 |
33241945 |
T |
C |
exonic |
IFNAR2 |
. |
nonsynonymous SNV |
IFNAR2:NM_000874:exon2:c.T23C:p.F8S,IFNAR2:NM_... |
22327 |
Hepatitis_b_virus,_susceptibility_to |
MedGen:C1864880,OMIM:610424 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
82.00000 |
21 |
chr21 |
33241945 |
. |
T |
C |
82.00000 |
. |
DP=21;VDB=0.848733;SGB=-0.662043;RPB=0.833227;... |
GT:PL |
0/1:115,0,183 |
| 3334527 |
chr22 |
19941504 |
19941504 |
C |
T |
intronic |
TXNRD2 |
. |
. |
. |
227810 |
Selective_serotonin_reuptake_inhibitors_respon... |
MedGen:CN236561 |
reviewed_by_expert_panel |
drug_response |
0.5 |
115.00000 |
23 |
chr22 |
19941504 |
. |
C |
T |
115.00000 |
. |
DP=23;VDB=0.432988;SGB=-0.670168;RPB=0.95306;M... |
GT:PL |
0/1:148,0,181 |
| 3334572 |
chr22 |
19963748 |
19963748 |
G |
A |
exonic |
COMT |
. |
nonsynonymous SNV |
COMT:NM_007310:exon2:c.G322A:p.V108M,COMT:NM_0... |
32630 |
CATECHOL-O-METHYLTRANSFERASE_POLYMORPHISM|not_... |
.|MedGen:CN169374|MedGen:CN236568 |
reviewed_by_expert_panel |
drug_response |
0.5 |
141.00000 |
36 |
chr22 |
19963748 |
. |
G |
A |
141.00000 |
. |
DP=36;VDB=0.952493;SGB=-0.688148;RPB=1;MQB=1;M... |
GT:PL |
0/1:174,0,176 |
| 3360016 |
chr22 |
42128945 |
42128945 |
C |
T |
splicing |
CYP2D6 |
NM_000106:exon4:c.506-1G>A,NM_001025161:exon3:... |
. |
. |
31928 |
Debrisoquine,_poor_metabolism_of|not_specified... |
MedGen:C1837156|MedGen:CN169374|MedGen:CN23646... |
reviewed_by_expert_panel |
drug_response |
0.5 |
32.06260 |
70 |
chr22 |
42128945 |
. |
C |
T |
32.06260 |
. |
DP=70;VDB=0.735281;SGB=-0.686358;RPB=0.826843;... |
GT:PL |
0/1:65,0,51 |
| 3375333 |
chrX |
624523 |
624523 |
C |
A |
UTR5 |
SHOX |
NM_000451:c.-6375C>A,NM_006883:c.-6375C>A |
. |
. |
189165 |
Short_stature,_idiopathic,_X-linked |
MedGen:C1845118,OMIM:300582,Orphanet:ORPHA314795 |
no_assertion_criteria_provided |
Pathogenic |
0.5 |
54.00000 |
16 |
chrX |
624523 |
. |
C |
A |
54.00000 |
. |
DP=16;VDB=0.828314;SGB=-0.590765;RPB=0.76338;M... |
GT:PL |
0/1:87,0,130 |
| 3375334 |
chrX |
624528 |
624528 |
G |
C |
UTR5 |
SHOX |
NM_000451:c.-6370G>C,NM_006883:c.-6370G>C |
. |
. |
189164 |
Short_stature,_idiopathic,_X-linked |
MedGen:C1845118,OMIM:300582,Orphanet:ORPHA314795 |
no_assertion_criteria_provided |
Pathogenic |
1.0 |
166.00000 |
18 |
chrX |
624528 |
. |
G |
C |
166.00000 |
. |
DP=18;VDB=0.324463;SGB=-0.689466;MQSB=1;MQ0F=0... |
GT:PL |
1/1:196,48,0 |
| 3448095 |
chrX |
114903581 |
114903581 |
C |
G |
intronic |
HTR2C |
. |
. |
. |
227815 |
not_specified|antipsychotics_response_-_Toxici... |
MedGen:CN169374|MedGen:CN236479|MedGen:CN23651... |
reviewed_by_expert_panel |
drug_response |
1.0 |
225.00000 |
21 |
chrX |
114903581 |
. |
C |
G |
225.00000 |
. |
DP=21;VDB=0.585521;SGB=-0.692352;MQSB=1;MQ0F=0... |
GT:PL |
1/1:255,63,0 |
| 3459799 |
chrX |
129736814 |
129736814 |
C |
A |
intergenic |
APLN,XPNPEP2 |
dist=81858;dist=2156 |
. |
. |
26606 |
Angioedema_induced_by_ACE_inhibitors,_suscepti... |
MedGen:C3806711,OMIM:300909,Orphanet:ORPHA100057 |
no_assertion_criteria_provided |
risk_factor |
0.5 |
96.00000 |
16 |
chrX |
129736814 |
. |
C |
A |
96.00000 |
. |
DP=16;VDB=0.538025;SGB=-0.651104;RPB=0.9945;MQ... |
GT:PL |
0/1:129,0,137 |