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

dbSNP: rs1556913258
rs1556913258
HUWE1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913258
rs1556913258
HUWE1
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913258
rs1556913258
HUWE1
CUI: C1854882
Disease: Absent speech
Absent speech 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913258
rs1556913258
HUWE1
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913258
rs1556913258
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913258
rs1556913258
HUWE1
CUI: C0038379
Disease: Strabismus
Strabismus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913258
rs1556913258
HUWE1
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913268
rs1556913268
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913268
rs1556913268
HUWE1
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913268
rs1556913268
HUWE1
CUI: C1854882
Disease: Absent speech
Absent speech 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913268
rs1556913268
HUWE1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913268
rs1556913268
HUWE1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913268
rs1556913268
HUWE1
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556914274
rs1556914274
HUWE1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556914274
rs1556914274
HUWE1
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556914274
rs1556914274
HUWE1
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556914274
rs1556914274
HUWE1
CUI: C1854882
Disease: Absent speech
Absent speech 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556914274
rs1556914274
HUWE1
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556914274
rs1556914274
HUWE1
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		A 0.700 GeneticVariation CLINVAR