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: rs121434613
rs121434613
PAK3
4 0.882 0.240 X 111194402 missense variant C/A snv 0.020 1.000 2 2003 2020
dbSNP: rs781908532
rs781908532
SLC25A1
8 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1052108705
rs1052108705
POU5F1 ; TCF19
3 6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 0.010 1.000 1 2019 2019
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
dbSNP: rs151191437
rs151191437
LIMK2
1 22 31277081 missense variant T/C snv 1.1E-03 1.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs374073809
rs374073809
VASH2
1 1 212961166 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 3.2E-05 0.010 1.000 1 2019 2019
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: rs730882213
rs730882213
SCAMP4 ; ADAT3
4 0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs747138999
rs747138999
GABRA1
2 1.000 0.040 5 161895753 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs74900327
rs74900327
SMN2
2 1.000 0.120 5 70049747 missense variant T/C snv 0.010 1.000 1 2019 2019
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: rs869312966
rs869312966
SCN8A
7 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs878853147
rs878853147
NLGN3
3 0.925 0.200 X 71169399 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs879255652
rs879255652
SCN8A
7 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1047322213
rs1047322213
PQBP1
2 1.000 0.120 X 48902470 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1372862248
rs1372862248
GPT2
2 1.000 0.120 16 46926991 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs187438258
rs187438258
MYH2 ; MYHAS
2 17 10525806 missense variant G/A snv 8.6E-04 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs200115000
rs200115000
CAMK2B
2 1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs202198533
rs202198533
MYH2 ; MYHAS
2 17 10533547 missense variant C/T snv 1.6E-04 1.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs397514627
rs397514627
CAMK2G
5 0.882 0.160 10 73842486 missense variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs745756308
rs745756308
HNMT ; LOC107985948
2 1.000 2 138013874 missense variant T/C snv 4.0E-06 0.020 1.000 2 2015 2017
dbSNP: rs1301785134
rs1301785134
ATR
3 0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017