Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519992
TP53
0.742 0.400 17 7674890 missense variant T/A;C;G snv 13
rs1057519995
TP53
0.807 0.240 17 7674200 missense variant T/A snv 8
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 16
rs1057519997
TP53
0.776 0.320 17 7676037 missense variant A/C;G;T snv 9
rs1057520002
TP53
0.695 0.360 17 7674242 missense variant A/C;G snv 20
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs1057520004
TP53
0.752 0.240 17 7674884 missense variant A/C;T snv 11
rs1057520007
TP53
0.701 0.440 17 7674917 missense variant T/A;C;G snv 17
rs11125529
ACYP2
0.882 0.280 2 54248729 intron variant C/A;T snv 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs121912580
SMAD4
0.807 0.280 18 51067036 missense variant G/A;C;T snv 7
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 3
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv 15
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 20
rs121912657
TP53
0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 15
rs121912660
TP53
0.683 0.240 17 7673781 missense variant C/A;G;T snv 18
rs121912967
DCC
0.925 0.080 18 52906134 missense variant T/C snv 1
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv 11
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 25
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37