PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Retinitis punctata albescens (disorder) ×
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: rs434102
rs434102 		1.000 0.040 6 42698323 missense variant T/A;C;G snv 0.78; 1.2E-05
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		Eye Diseases 0.010 1.000 1 1997 1997