Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 10
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv 9
rs774843232
PGAP2
0.851 0.080 11 3825024 missense variant G/A;C;T snv 8.0E-06; 3.6E-05; 1.2E-05 9
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs1057516085
KCNQ2
0.827 0.080 20 63444747 missense variant C/T snv 8
rs781908532
SLC25A1
0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 8
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv 7
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv 7
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv 7
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 6
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 6
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv 6
rs5030849
PAH
0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 6
rs121918524
PHF8
0.827 0.200 X 54011232 missense variant A/G snv 6
rs185645212
POLG
0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 6
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 6
rs878854402
TBL1XR1
0.851 0.280 3 177033050 missense variant T/C snv 6
rs1364926780
ABCB1
0.882 0.200 7 87550272 missense variant C/T snv 5
rs199516560
ABCB1
0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 5
rs122460151
ARSL
0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 5
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs398122917
CLIC2
0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04 5
rs165656
COMT
0.925 0.200 22 19961340 intron variant G/A;C;T snv 5
rs1162306056
KCNQ3
0.882 0.080 8 132174294 missense variant C/T snv 5
rs61748420
MECP2
0.851 0.200 X 154031329 missense variant G/A;T snv 5