Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins 4
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs1057519724
PTEN
1.000 0.080 10 87933236 missense variant G/A;T snv 3
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23
rs121913292
PTEN
1.000 0.080 10 87933148 frameshift variant G/- del 1
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs1554897879
PTEN
10 87931085 stop gained C/A snv 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs11540654
TP53
0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 3
rs1057519997
TP53
0.776 0.320 17 7676037 missense variant A/C;G;T snv 9
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs786201057
TP53
0.677 0.400 17 7675995 missense variant G/A;C;T snv 24
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 17
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 16
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs587781991
TP53
0.724 0.240 17 7675208 missense variant C/A;T snv 14
rs1057519978
TP53
0.763 0.360 17 7675191 missense variant A/C;G;T snv 12
rs1555526250
TP53
17 7675191 frameshift variant -/GGTCT delins 1
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv 15
rs1057519977
TP53
0.763 0.360 17 7675189 missense variant G/C snv 13
rs587782620
TP53
17 7675185 missense variant C/A;T snv 1
rs786203071
TP53
0.776 0.240 17 7675181 missense variant T/A;G snv 8
rs786201419
TP53
0.790 0.160 17 7675180 missense variant C/A;T snv 8