PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Retinal Diseases ×
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: rs375090109
rs375090109 		6 42722120 missense variant C/A;G snv 4.0E-06; 2.4E-05
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 1997 1997