Gene: PRPH2 ×
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: rs61755793
rs61755793
PRPH2
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61755814
rs61755814
PRPH2
A 0.700 GeneticVariation 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
dbSNP: rs753657349
rs753657349
PRPH2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61755792
rs61755792
PRPH2
0.020 GeneticVariation BEFREE Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation. 19262438

2009
dbSNP: rs61755792
rs61755792
PRPH2
0.020 GeneticVariation BEFREE The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy. 8747448

1995