Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236065
rs527236065
EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		CT 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs527236065
rs527236065
EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		CT 0.700 CausalMutation CLINVAR