Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338903
rs80338903
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs80338903
rs80338903
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
dbSNP: rs80338903
rs80338903
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR The effect of the common c.2299delG mutation in USH2A on RNA splicing. 24607488

2014
dbSNP: rs80338903
rs80338903
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053

2014
dbSNP: rs80338903
rs80338903
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Expressivity of hearing loss in cases with Usher syndrome type IIA. 24160897

2013
dbSNP: rs80338903
rs80338903
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970

2012
dbSNP: rs80338903
rs80338903
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR The USH2A c.2299delG mutation: dating its common origin in a Southern European population. 20145675

2010
dbSNP: rs80338903
rs80338903
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Identification of novel USH2A mutations: implications for the structure of USH2A protein. 10909849

2000
dbSNP: rs80338903
rs80338903
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 9624053

1998