Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397516890
BRAF
1.000 0.080 7 140781601 inframe deletion TCC/- del 1
rs397516897
BRAF
1.000 0.080 7 140753334 inframe deletion TCA/- del 1
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv 6
rs754806883
CDKN2A
0.925 0.160 9 21971063 missense variant C/A;G;T snv 4.3E-06; 8.5E-06 2
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9
rs267598140
DDR2
0.925 0.080 1 162778600 missense variant T/A;G snv 1
rs121913428
EGFR
0.827 0.120 7 55174015 missense variant G/A;C snv 4
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv 3
rs149840192
EGFR
0.807 0.080 7 55154129 missense variant C/A;T snv 3
rs28929495
EGFR
0.807 0.120 7 55174014 missense variant G/A;C;T snv 3
rs121913229
EGFR
0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06 2
rs121913231
EGFR
1.000 0.080 7 55174794 missense variant C/T snv 8.0E-06 2
rs121913430
EGFR
1.000 0.080 7 55174740 missense variant G/A snv 2
rs121913446
EGFR
0.925 0.120 7 55174735 missense variant C/T snv 2
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 1
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 1
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 1
rs121913418
EGFR
0.882 0.160 7 55174818 missense variant G/A;T snv 1
rs121913420
EGFR
1.000 0.080 7 55174737 missense variant G/A snv 1
rs121913427
EGFR
1.000 0.080 7 55174773 missense variant G/A;C snv 1
rs121913464
EGFR
1.000 0.080 7 55174792 missense variant C/A snv 1
rs121913466
EGFR
1.000 0.080 7 55174762 missense variant T/C snv 1
rs121913467
EGFR
1.000 0.080 7 55174730 stop gained G/A snv 1
rs397517086
EGFR
1.000 0.080 7 55173986 inframe deletion AAC/- del 1
rs397517094
EGFR
1.000 0.080 7 55174769 protein altering variant CAAGGAATTAAGAGAAGC/AAA delins 1