Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041876
rs886041876
HUWE1
CUI: C0038379
Disease: Strabismus
Strabismus 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041876
rs886041876
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886041876
rs886041876
HUWE1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041876
rs886041876
HUWE1
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041876
rs886041876
HUWE1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041876
rs886041876
HUWE1
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041876
rs886041876
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041876
rs886041876
HUWE1
CUI: C1854882
Disease: Absent speech
Absent speech 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs863224879
rs863224879
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs782393002
rs782393002
HUWE1
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs782393002
rs782393002
HUWE1
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs782393002
rs782393002
HUWE1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs782393002
rs782393002
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs782393002
rs782393002
HUWE1
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs782393002
rs782393002
HUWE1
CUI: C1854882
Disease: Absent speech
Absent speech 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C1837402
Disease: Flat occiput
Flat occiput 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C1839125
Disease: Say Meyer syndrome
Say Meyer syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C0038379
Disease: Strabismus
Strabismus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C0026034
Disease: Microstomia
Microstomia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C0016202
Disease: Flatfoot
Flatfoot 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		C 0.700 GeneticVariation CLINVAR