Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556913180
rs1556913180
HUWE1
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913180
rs1556913180
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913180
rs1556913180
HUWE1
CUI: C1854882
Disease: Absent speech
Absent speech 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913180
rs1556913180
HUWE1
CUI: C0038379
Disease: Strabismus
Strabismus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913180
rs1556913180
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556913180
rs1556913180
HUWE1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		C 0.700 GeneticVariation CLINVAR