Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369522997
rs369522997
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		G 0.700 CausalMutation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
dbSNP: rs369522997
rs369522997
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		G 0.700 CausalMutation CLINVAR Clinical heterogeneity in a family with mutations in USH2A. 25521520

2015
dbSNP: rs369522997
rs369522997
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		G 0.700 CausalMutation CLINVAR Expressivity of hearing loss in cases with Usher syndrome type IIA. 24160897

2013
dbSNP: rs369522997
rs369522997
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		G 0.700 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs369522997
rs369522997
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		G 0.700 CausalMutation CLINVAR Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 17405132

2007
dbSNP: rs369522997
rs369522997
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		G 0.700 CausalMutation CLINVAR USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. 15241801

2004
dbSNP: rs369522997
rs369522997
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		G 0.700 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113

2000