Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 27
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
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
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
rs786201057
TP53
0.677 0.400 17 7675995 missense variant G/A;C;T snv 24
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
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
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
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