Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
T 0.700 CausalMutation CLINVAR Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations. 27624628

2016
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
T 0.700 CausalMutation CLINVAR Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526

2015
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
T 0.700 CausalMutation CLINVAR Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. 23924366

2013
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
T 0.700 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
T 0.700 CausalMutation CLINVAR Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 19881469

2009
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
T 0.700 CausalMutation CLINVAR Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. 18641288

2008
dbSNP: rs886039450
rs886039450
USH2A ; LOC105372918
T 0.700 CausalMutation CLINVAR Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 15325563

2004