Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200826424
rs200826424
Entrez Id: 55213
Gene Symbol: RCBTB1
RCBTB1
CUI: C0035334
Disease:
Retinitis Pigmentosa
A 0.700 GeneticVariation CLINVAR Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016