Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781223647
rs781223647
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 27318125

2016
dbSNP: rs781223647
rs781223647
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. 24853665

2015
dbSNP: rs781223647
rs781223647
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. 25558175

2014
dbSNP: rs781223647
rs781223647
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. 25366773

2014
dbSNP: rs781223647
rs781223647
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
dbSNP: rs781223647
rs781223647
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Molecular epidemiology of Usher syndrome in Italy. 21738395

2011
dbSNP: rs781223647
rs781223647
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. 12525556

2003
dbSNP: rs781223647
rs781223647
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Identification of novel USH2A mutations: implications for the structure of USH2A protein. 10909849

2000