Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312183
rs869312183
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS
CUI: C0854723
Disease:
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016