USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Usher syndrome type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339534
Disease:
Usher syndrome type 2 		0.710 GeneticVariation BEFREE Caucasian frequent mutations p.C759F in arRP and p.E767fs in USH2 were not found. 25078356 2014
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339534
Disease:
Usher syndrome type 2 		A 0.710 CausalMutation CLINVAR