Gene: PRPH2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755800
rs61755800
PRPH2
C 0.710 GeneticVariation CLINVAR Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. 8449524

1993
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: rs1554268546
rs1554268546
PRPH2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554269053
rs1554269053
PRPH2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554269081
rs1554269081
PRPH2
C 0.700 CausalMutation CLINVAR

dbSNP: rs527236097
rs527236097
PRPH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs527236098
rs527236098
PRPH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs61755806
rs61755806
PRPH2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61755817
rs61755817
PRPH2
G 0.700 CausalMutation CLINVAR