Source: ALL

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: rs1171889657
rs1171889657
HADHB
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: rs1177566365
rs1177566365
RIMS2
8 103766303 missense variant G/T snv 4.0E-06 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016
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
PAK3
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
PAK3
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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2008 2008
dbSNP: rs121917899
rs121917899
PQBP1
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: rs121918364
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2006 2006
dbSNP: rs121918523
rs121918523
PHF8
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
PHF8
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
ASMT
Y 1642868 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2006 2006
dbSNP: rs122460151
rs122460151
ARSL
0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 1999 1999
dbSNP: rs122468181
rs122468181
UPF3B
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: rs1249144069
rs1249144069
PITRM1 ; PITRM1-AS1
0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016
dbSNP: rs1278838206
rs1278838206
PCDH19
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
dbSNP: rs1282813621
rs1282813621
UPF3B
0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2010 2010
dbSNP: rs1287153074
rs1287153074
FOXP1
1.000 0.080 3 70977021 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs1294642759
rs1294642759
FOXP1
1.000 0.080 3 70959372 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs1301785134
rs1301785134
ATR
0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2017 2017
dbSNP: rs1301796529
rs1301796529
LDLR ; MIR6886
19 11113444 missense variant C/G snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016
dbSNP: rs132630328
rs132630328
GK
0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 1996 1996
dbSNP: rs1335072648
rs1335072648
RAD21
1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2017 2017
dbSNP: rs1364926780
rs1364926780
ABCB1
0.882 0.200 7 87550272 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2008 2008
dbSNP: rs1372862248
rs1372862248
GPT2
1.000 0.120 16 46926991 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2018 2018