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: 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: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
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: 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: rs6511901
rs6511901
CC2D1A
1.000 0.200 19 13916839 intron variant C/T snv 0.39
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2012 2012
dbSNP: rs6530893
rs6530893
TUSC3
1.000 0.200 8 15671068 intron variant T/C snv 0.14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2015 2015
dbSNP: rs6994908
rs6994908
TUSC3
1.000 0.200 8 15674943 intron variant T/C snv 0.32
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2015 2015
dbSNP: rs723744
rs723744
TTR
0.925 0.200 18 31592513 intron variant G/T snv 0.38
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2006 2006
dbSNP: rs752306
rs752306
DRD4
0.925 0.200 11 637622 intron variant C/T snv 6.4E-02 4.8E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2012 2012
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: rs121918368
rs121918368
TRNT1 ; CRBN
0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 1.000 3 2008 2015
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: 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: 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: 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: 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: 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: 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
dbSNP: rs61751367
rs61751367
MECP2
0.925 0.080 X 154030939 stop gained G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2016 2016
dbSNP: rs879255652
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs28934906
rs28934906
MECP2
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
MECP2
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
PAK3
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