SLC9A6, solute carrier family 9 member A6, 10479

N. diseases: 210; N. variants: 15
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556617455
rs1556617455
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C2678194
Disease:
Mental Retardation, X-Linked, Syndromic, Christianson Type 		A 0.700 GeneticVariation CLINVAR SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. 18342287 2008