Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs749451963
rs749451963
DGCR2
1 22 19064948 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs753303079
rs753303079
CD55
1 1 207325673 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs758252808
rs758252808
HNMT
2 1.000 2 137970206 missense variant G/A snv 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs761249181
rs761249181
COL9A1
1 6 70252139 missense variant C/T snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs768746587
rs768746587
POU5F1 ; TCF19
3 6 31165136 missense variant C/T snv 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs864309721
rs864309721
CDC42
2 1.000 1 22086451 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs879255635
rs879255635
ZBTB20
1 3 114339384 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs930549037
rs930549037
COL9A2
1 1 40301333 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs968910165
rs968910165
NCAM2
1 21 21286370 missense variant A/G;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1445362103
rs1445362103
ARHGEF7
2 1.000 0.040 13 111244248 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs145390085
rs145390085
L2HGDH
2 1.000 0.040 14 50269297 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1882260
rs1882260
NLGN4X
2 1.000 0.040 X 5890820 3 prime UTR variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs398122368
rs398122368
SMARCB1
3 0.925 0.040 22 23791772 missense variant G/A;C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs672601376
rs672601376
GRIN2B ; LOC105369668
3 0.925 0.040 12 13608760 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs672601378
rs672601378
GRIN2B ; LOC105369668
4 0.882 0.040 12 13615149 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs747138999
rs747138999
GABRA1
2 1.000 0.040 5 161895753 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs781442277
rs781442277
CENPO ; PTRHD1 ; LOC105369164
3 1.000 0.040 2 24793223 missense variant C/T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs869320632
rs869320632
LMAN2L
4 0.925 0.040 2 96739883 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057516085
rs1057516085
KCNQ2
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1162306056
rs1162306056
KCNQ3
5 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs121434612
rs121434612
PAK3
2 1.000 0.080 X 111142119 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs121917899
rs121917899
PQBP1
2 1.000 0.080 X 48901944 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1287153074
rs1287153074
FOXP1
2 1.000 0.080 3 70977021 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1294642759
rs1294642759
FOXP1
2 1.000 0.080 3 70959372 missense variant C/T snv 0.010 1.000 1 2019 2019