Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28934906
rs28934906
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.700 1.000 6 2000 2010
dbSNP: rs28934908
rs28934908
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.050 1.000 5 2002 2016
dbSNP: rs121434613
rs121434613
0.882 0.240 X 111194402 missense variant C/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 1.000 2 2003 2020
dbSNP: rs180177035
rs180177035
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.700 1.000 2 2006 2006
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 1.000 2 2008 2008
dbSNP: rs61748420
rs61748420
0.851 0.200 X 154031329 missense variant G/A;T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 1.000 2 2001 2016
dbSNP: rs745756308
rs745756308
1.000 2 138013874 missense variant T/C snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 1.000 2 2015 2017
dbSNP: rs80338796
rs80338796
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.700 1.000 2 2007 2007
dbSNP: rs863225264
rs863225264
0.827 0.240 1 11130747 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 1.000 2 2015 2016
dbSNP: rs1047322213
rs1047322213
1.000 0.120 X 48902470 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2018 2018
dbSNP: rs104886492
rs104886492
1.000 0.120 X 53432410 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2011 2011
dbSNP: rs104894743
rs104894743
ARX
0.807 0.200 X 25012937 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2009 2009
dbSNP: rs1057516085
rs1057516085
0.827 0.080 20 63444747 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2015 2015
dbSNP: rs1131692042
rs1131692042
0.925 0.120 X 154399803 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2015 2015
dbSNP: rs1162306056
rs1162306056
0.882 0.080 8 132174294 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2015 2015
dbSNP: rs1171889657
rs1171889657
2 26273656 missense variant T/C snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2011 2011
dbSNP: rs118203933
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 1992 1992
dbSNP: rs121434612
rs121434612
1.000 0.080 X 111142119 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2000 2000
dbSNP: rs121434614
rs121434614
0.925 0.200 X 111196570 missense variant G/C snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2007 2007
dbSNP: rs121917899
rs121917899
1.000 0.080 X 48901944 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2016 2016
dbSNP: rs121918523
rs121918523
0.925 0.200 X 54016662 stop gained T/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2007 2007
dbSNP: rs121918524
rs121918524
0.827 0.200 X 54011232 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2010 2010
dbSNP: rs121918822
rs121918822
Y 1642868 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2011 2011
dbSNP: rs122468181
rs122468181
0.925 0.200 X 119837771 stop gained G/A;T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2013 2013
dbSNP: rs1278838206
rs1278838206
0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2016 2016