Source: CURATED

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: rs1554150607
rs1554150607
MEF2C
0.925 0.160 5 88823786 start lost C/G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 4 2009 2013
dbSNP: rs1553630279
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 3 1989 2017
dbSNP: rs1057521721
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2017 2017
dbSNP: rs1554041295
rs1554041295
ZSWIM6
0.925 0.160 5 61541917 stop gained C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2017 2017
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2016 2016
dbSNP: rs869312873
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2016 2016
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1014959895
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs112795301
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.710 1.000 0 2019 2019
dbSNP: rs1131692231
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1135401761
rs1135401761
AHDC1
0.925 0.200 1 27548302 stop gained G/A;C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs122445099
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1555103652
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1556024875
rs1556024875
THOC2
0.882 0.160 X 123634002 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1556910184
rs1556910184
HUWE1
0.882 0.240 X 53534615 missense variant C/G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1556913268
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1556978515
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1557006903
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0