Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338902
rs80338902
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.750 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs80338902
rs80338902
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.750 GeneticVariation CLINVAR Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. 10775529

2000