Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518704
rs1057518704
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057520538
rs1057520538
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918525
rs121918525
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918526
rs121918526
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918527
rs121918527
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
CUI: C1854882
Disease: Absent speech
Absent speech 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
CUI: C0575802
Disease: Small hand
Small hand 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
CUI: C1835465
Disease: Short stature, postnatal
Short stature, postnatal 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556909287
rs1556909287
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		G 0.700 CausalMutation CLINVAR HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. 27130160

2016
dbSNP: rs1556910184
rs1556910184
HUWE1
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556910184
rs1556910184
HUWE1
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556910184
rs1556910184
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556910184
rs1556910184
HUWE1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556912828
rs1556912828
HUWE1
CUI: C1854882
Disease: Absent speech
Absent speech 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556912828
rs1556912828
HUWE1
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556912828
rs1556912828
HUWE1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556912828
rs1556912828
HUWE1
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556912828
rs1556912828
HUWE1
CUI: C0038379
Disease: Strabismus
Strabismus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556912828
rs1556912828
HUWE1
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		C 0.700 GeneticVariation CLINVAR