Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769601671
rs769601671
RP1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693

2013