PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Retinitis Pigmentosa 7, Digenic ×
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: rs121918563
rs121918563 		0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C2675552
Disease: Retinitis Pigmentosa 7, Digenic
Retinitis Pigmentosa 7, Digenic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0