Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 22
rs730882008
TP53
0.683 0.440 17 7673775 missense variant C/A;G;T snv 4.0E-06 22
rs876658468
TP53
0.689 0.440 17 7674954 missense variant G/A;C;T snv 22
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs193920774
TP53
0.695 0.440 17 7673823 missense variant C/A;T snv 21
rs28934874
TP53
0.695 0.480 17 7675161 missense variant G/A;C;T snv 21
rs876660821
TP53
0.689 0.400 17 7675075 missense variant A/C;G;T snv 21
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 20
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs530941076
TP53
0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 20
rs587781525
TP53
0.689 0.480 17 7673778 missense variant T/A;C;G snv 20
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 20
rs1057519991
TP53
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 19
rs753660142
TP53
0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 19
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv 18
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs1057520007
TP53
0.701 0.440 17 7674917 missense variant T/A;C;G snv 17
rs148924904
TP53
0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06 17
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 17
rs483352697
TP53
0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 17
rs587780073
TP53
0.708 0.400 17 7674262 missense variant T/C;G snv 17
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 17