Source: CLINVAR

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: rs1325394060
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		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: rs1325394060
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06
CUI: C1835465
Disease: Short stature, postnatal
Short stature, postnatal 		0.700 0