Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12255372
TCF7L2
0.667 0.480 10 113049143 intron variant G/A;T snv 1
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05 8
rs121917901
ERCC6
0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05 7
rs121917902
ERCC6 ; PGBD3
0.790 0.440 10 49524073 stop gained G/A snv 7
rs121913387
CDKN2A
0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06 2
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs587781525
TP53
0.689 0.480 17 7673778 missense variant T/A;C;G snv 20
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs483352697
TP53
0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 17
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15