PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755800
rs61755800
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.710 GeneticVariation BEFREE To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene. 18050133 2008
dbSNP: rs61755800
rs61755800
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		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