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: rs745756308
rs745756308
HNMT ; LOC107985948
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: rs10194776
rs10194776
HTR2B ; PSMD1
2 231115305 intron variant C/T snv 0.54
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs1052108705
rs1052108705
POU5F1 ; TCF19
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs115466046
rs115466046
KCNJ10
1 160042480 missense variant C/T snv 1.2E-02 1.1E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
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: 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: 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: 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: 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: 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
dbSNP: rs150263896
rs150263896
ZBTB20
3 114339010 missense variant C/T snv 1.1E-05 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016
dbSNP: rs151191437
rs151191437
LIMK2
22 31277081 missense variant T/C snv 1.1E-03 1.2E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs16827801
rs16827801
HTR2B ; PSMD1
2 231116063 intron variant A/C;G snv 0.40
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs187438258
rs187438258
MYH2 ; MYHAS
17 10525806 missense variant G/A snv 8.6E-04 1.9E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2018 2018
dbSNP: rs199583537
rs199583537
LRP2
2 169170596 missense variant C/T snv 2.5E-04 9.8E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016
dbSNP: rs202198533
rs202198533
MYH2 ; MYHAS
17 10533547 missense variant C/T snv 1.6E-04 1.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2018 2018
dbSNP: rs35693326
rs35693326
RS1 ; CDKL5
X 18653446 missense variant G/A;T snv 8.5E-03; 5.5E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs370304886
rs370304886
SPTAN1
9 128582740 missense variant G/A;C snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2012 2012
dbSNP: rs370667926
rs370667926
MED23
1.000 6 131603129 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs374073809
rs374073809
VASH2
1 212961166 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 3.2E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs374854258
rs374854258
DGCR2
22 19065049 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016
dbSNP: rs387906728
rs387906728
UBE2A
1.000 X 119574743 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2015 2015
dbSNP: rs551253128
rs551253128
MID2 ; LOC101928335
X 107905581 missense variant A/G snv 1.3E-03 1.6E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs587777570
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014