Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv 10
rs121913284
PIK3CA
0.776 0.160 3 179203765 missense variant T/A;G snv 10
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv 6
rs1057519757
PIK3R1
0.882 0.120 5 68293310 missense variant G/A;C snv 5
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv 5
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv 5
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs1057519947
PPP2R1A
0.790 0.160 19 52212730 missense variant G/A snv 9
rs786205228
PPP2R1A
0.827 0.080 19 52212718 missense variant C/G;T snv 3
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
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
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs138729528
TP53
0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 25
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 25
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 25
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 24
rs587780070
TP53
0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 23
rs786201838
TP53
0.683 0.440 17 7674953 missense variant T/A;C;G snv 23
rs876658468
TP53
0.689 0.440 17 7674954 missense variant G/A;C;T snv 22
rs193920774
TP53
0.695 0.440 17 7673823 missense variant C/A;T snv 21