Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 10
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv 9
rs1060500126
PTEN
0.790 0.160 10 87933223 missense variant A/C;G snv 8
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 8
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs786204849
FIBP
0.882 0.200 11 65885181 stop gained G/A snv 7
rs111033178
MYO7A
0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 6
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 5
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1555179320
LOC105369689 ; ABCC9
0.925 0.040 12 21817283 missense variant C/T snv 4
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 4