Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 19
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv 18
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 14
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv 13
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv 12
rs4846049
C1orf167 ; MTHFR
0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 11
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv 9
rs1057516085
KCNQ2
0.827 0.080 20 63444747 missense variant C/T snv 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
rs121918524
PHF8
0.827 0.200 X 54011232 missense variant A/G snv 6
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv 6
rs878854402
TBL1XR1
0.851 0.280 3 177033050 missense variant T/C snv 6
rs886041761
KCNA2
0.925 0.200 1 110603902 missense variant C/T snv 6
rs1162306056
KCNQ3
0.882 0.080 8 132174294 missense variant C/T snv 5
rs1249144069
PITRM1-AS1 ; PITRM1
0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 5
rs1364926780
ABCB1
0.882 0.200 7 87550272 missense variant C/T snv 5