PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61755817
rs61755817
1.000 0.080 6 42704457 missense variant A/C;G snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0