Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853006
rs137853006
PROM1
A 0.720 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs137853006
rs137853006
PROM1
0.720 GeneticVariation BEFREE Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy. 28840994

2017
dbSNP: rs137853006
rs137853006
PROM1
0.720 GeneticVariation BEFREE The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 20393116

2010