PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Cone 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: rs61755766
rs61755766 		1.000 0.040 6 42722255 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.010 1.000 1 1997 1997