Disease: Deafness, Autosomal Recessive 18 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1207247951
rs1207247951
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C1865870
Disease:
Deafness, Autosomal Recessive 18 		T 0.700 CausalMutation CLINVAR Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. 23251578 2012