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: rs1556913180
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0
dbSNP: rs1556913180
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.700 0
dbSNP: rs1556913180
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs1556913180
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1556913180
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0