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: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 GeneticVariation CLINVAR Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. 25333064

2014
dbSNP: rs369522997
rs369522997
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 GeneticVariation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898

2008
dbSNP: rs369522997
rs369522997
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 GeneticVariation 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: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 GeneticVariation CLINVAR USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. 15241801

2004
dbSNP: rs369522997
rs369522997
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		G 0.800 GeneticVariation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113

2000