Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033364
rs111033364
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.720 CausalMutation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999

2010
dbSNP: rs111033364
rs111033364
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.720 CausalMutation CLINVAR Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. 18463160

2008
dbSNP: rs111033364
rs111033364
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.720 CausalMutation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898

2008
dbSNP: rs111033364
rs111033364
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.720 CausalMutation CLINVAR Development of a genotyping microarray for Usher syndrome. 16963483

2007
dbSNP: rs111033364
rs111033364
USH2A
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		T 0.720 CausalMutation CLINVAR Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. 15015129

2004