USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: RETINITIS PIGMENTOSA 39 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518011
rs397518011
Entrez Id: 7399;105372918
Gene Symbol: USH2A;LOC105372918
USH2A;LOC105372918
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
dbSNP: rs397518011
rs397518011
Entrez Id: 7399;105372918
Gene Symbol: USH2A;LOC105372918
USH2A;LOC105372918
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Usher syndrome in Denmark: mutation spectrum and some clinical observations. 27957503 2016