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: 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: 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: 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: rs165656
rs165656
COMT
0.925 0.200 22 19961340 intron variant G/A;C;T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2007 2007
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: rs1882260
rs1882260
NLGN4X
1.000 0.040 X 5890820 3 prime UTR variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2009 2009
dbSNP: rs199469705
rs199469705
TECR
0.925 0.200 19 14564841 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2013 2013
dbSNP: rs199516560
rs199516560
ABCB1
0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2008 2008
dbSNP: rs225010
rs225010
DIO2
1.000 0.200 14 80205936 intron variant C/T snv 0.51
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2004 2004
dbSNP: rs225012
rs225012
DIO2
1.000 0.200 14 80204392 intron variant A/C;G snv 0.51
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2004 2004
dbSNP: rs255012
rs255012 		1.000 0.200 7 41189487 regulatory region variant T/A;C snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2004 2004
dbSNP: rs267607165
rs267607165
TUBB3
0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2013 2013
dbSNP: rs267608402
rs267608402
MECP2
1.000 0.200 X 154030650 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2009 2009
dbSNP: rs281860639
rs281860639
KDM5C ; MIR6894
1.000 0.080 X 53199048 stop gained G/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs28934904
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2005 2005
dbSNP: rs3758653
rs3758653
DRD4
1.000 0.200 11 636399 upstream gene variant T/C snv 0.20
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2012 2012
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: rs387906799
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs387907281
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2014 2014
dbSNP: rs397514627
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2018 2018
dbSNP: rs398122368
rs398122368
SMARCB1
0.925 0.040 22 23791772 missense variant G/A;C snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 < 0.001 1 2019 2019
dbSNP: rs398123009
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2017 2017
dbSNP: rs45517305
rs45517305
TSC2
0.851 0.240 16 2081646 stop gained C/A;T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 1998 1998