Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368217569
rs368217569
RCBTB1
0.800 GeneticVariation UNIPROT Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781

2016
dbSNP: rs368217569
rs368217569
RCBTB1
T 0.800 CausalMutation CLINVAR