PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Vitelliform Macular Dystrophy ×
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: rs61755797
rs61755797 		0.882 0.080 6 42704565 missense variant G/A;C snv 4.0E-06
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019