Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 19
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs758022116
RALGAPB
0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 13
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs35135520
TIMM50
0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 12
rs776019250
TIMM50
0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 12
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs74315390
KCNQ2
0.790 0.120 20 63439609 missense variant C/G;T snv 8
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs749203329
MLLT1
0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 7
rs864309676
STX7
0.851 0.120 6 132472372 missense variant T/G snv 7
rs796052621
KCNQ2
0.827 0.080 20 63444756 missense variant C/T snv 6
rs1569508922
ALG13
0.882 0.160 X 111681268 missense variant T/A snv 5
rs267608493
CDKL5
0.827 0.200 X 18584331 missense variant C/A;T snv 5
rs796053134
SCN2A
0.827 0.080 2 165374737 missense variant T/C snv 5
rs782304760
KDM2B
0.925 0.080 12 121442391 missense variant C/T snv 2.8E-05 7.0E-06 4
rs11872992
MC4R
0.851 0.160 18 60373354 intron variant G/A snv 0.12 4