PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Macular dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139185976
rs139185976
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0730292
Disease:
Macular dystrophy 		T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs139185976
rs139185976
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0730292
Disease:
Macular dystrophy 		T 0.700 GeneticVariation CLINVAR RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. 9279751 1997