Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519917
MTOR
0.807 0.160 1 11124517 missense variant A/G;T snv 7
rs1057519926
PIK3CA
0.776 0.200 3 179210293 missense variant A/T snv 10
rs1057519854
FGFR2
0.882 0.080 10 121488063 missense variant A/T snv 5
rs1057519892
ERBB3
0.851 0.160 12 56088558 missense variant A/T snv 5
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv 4
rs1057519970
SPOP ; LOC107984999
0.925 0.120 17 49619068 missense variant C/A snv 2
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
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
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 25
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs730882008
TP53
0.683 0.440 17 7673775 missense variant C/A;G;T snv 4.0E-06 22
rs730882005
TP53
0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06 20
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 20
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs587782329
TP53
0.677 0.280 17 7674217 missense variant C/A;G;T snv 16
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv 16
rs1057519989
TP53
0.732 0.240 17 7674233 missense variant C/A;G;T snv 15
rs121912657
TP53
0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 15
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs587782664
TP53
0.742 0.320 17 7674252 missense variant C/A;G;T snv 4.0E-06 14
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13