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: rs1223073957
rs1223073957
MED25
12 0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs122445099
rs122445099
ATRX
6 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
dbSNP: rs776291104
rs776291104
MED25
12 0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 0.700 0
dbSNP: rs863225264
rs863225264
MTOR
6 0.827 0.240 1 11130747 missense variant C/T snv 0.700 0
dbSNP: rs1057521721
rs1057521721
GRIA3
5 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518934
rs1057518934
HERC2
8 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
9 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
7 0.851 0.280 X 53536580 missense variant G/C snv 0.700 0
dbSNP: rs1556913268
rs1556913268
HUWE1
6 0.851 0.240 X 53536600 missense variant T/A snv 0.700 0
dbSNP: rs1556978515
rs1556978515
HUWE1
7 0.851 0.280 X 53591113 missense variant T/C snv 0.700 0
dbSNP: rs1557006903
rs1557006903
HUWE1
5 0.851 0.280 X 53615815 missense variant C/T snv 0.700 0
dbSNP: rs74315442
rs74315442
CSTB
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs753520553
rs753520553
NAGLU
10 0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs878853325
rs878853325
PPT1
6 0.851 0.240 1 40089414 frameshift variant C/- delins 0.700 0
dbSNP: rs886041876
rs886041876
HUWE1
7 0.851 0.280 X 53551078 missense variant G/A snv 0.700 0
dbSNP: rs796052056
rs796052056
TMEM70
3 0.882 0.240 8 73976397 frameshift variant -/GT delins 0.700 1.000 3 2008 2014
dbSNP: rs387906739
rs387906739
DYNC1H1 ; LOC107984661
3 0.882 0.200 14 102039416 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs387906740
rs387906740
DYNC1H1
3 0.882 0.200 14 102002546 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs397514627
rs397514627
CAMK2G
5 0.882 0.160 10 73842486 missense variant C/A;G snv 0.710 1.000 1 2018 2018
dbSNP: rs727505397
rs727505397
CASK
3 0.882 0.240 X 41553782 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs1556024875
rs1556024875
THOC2
4 0.882 0.160 X 123634002 missense variant G/A snv 0.700 0
dbSNP: rs1556910184
rs1556910184
HUWE1
4 0.882 0.240 X 53534615 missense variant C/G snv 0.700 0