Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139185976
rs139185976
PRPH2
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs139185976
rs139185976
PRPH2
T 0.700 GeneticVariation CLINVAR RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. 9279751

1997