Disease: Intellectual Disability
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365
BDNF-AS ; BDNF
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 22
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 14
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv 13
rs536289169
GSTM1 ; GSTM2
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 13
rs2273697
ABCC2
0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 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
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
rs1162306056
KCNQ3
0.882 0.080 8 132174294 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
rs869320632
LMAN2L
0.925 0.040 2 96739883 missense variant C/T snv 4
rs1278838206
PCDH19
0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 3
rs1378981995
ARL13B
0.925 0.200 3 94003751 missense variant G/A snv 7.0E-06 3
rs199590018
SYP
0.925 0.120 X 49193294 missense variant G/A snv 1.4E-04 7.5E-05 3