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: 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
dbSNP: rs1378981995
rs1378981995
ARL13B
0.925 0.200 3 94003751 missense variant G/A snv 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2017 2017
dbSNP: rs140032597
rs140032597
UPF3B
0.925 0.200 X 119837923 missense variant C/T snv 6.6E-05 1.1E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2010 2010
dbSNP: rs1404008939
rs1404008939
ABCB1
0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2008 2008
dbSNP: rs140646329
rs140646329
KCNJ10
1 160042283 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs141228574
rs141228574
COQ4
1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2017 2017
dbSNP: rs142698837
rs142698837
TG
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.700 0
dbSNP: rs1427146168
rs1427146168
NUP214
1.000 0.200 9 131140671 stop gained C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2013 2013
dbSNP: rs1438466809
rs1438466809
KCNJ1
11 128840191 missense variant C/T snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs1445362103
rs1445362103
ARHGEF7
1.000 0.040 13 111244248 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2000 2000
dbSNP: rs145390085
rs145390085
L2HGDH
1.000 0.040 14 50269297 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016
dbSNP: rs1464216639
rs1464216639
MAN1B1
1.000 9 137106289 stop gained G/A snv 6.1E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011