PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Autosomal dominant retinitis pigmentosa ×
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: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1998 1998