Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033263
rs111033263
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 CausalMutation CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053

2014
dbSNP: rs111033263
rs111033263
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 CausalMutation CLINVAR Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. 24516651

2014
dbSNP: rs111033263
rs111033263
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 CausalMutation CLINVAR Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 23755871

2013
dbSNP: rs111033263
rs111033263
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs111033263
rs111033263
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 CausalMutation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999

2010
dbSNP: rs111033263
rs111033263
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 CausalMutation CLINVAR Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 17085681

2006