rs1554270834, PRPH2

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 6 42722069 frameshift variant GCTGGGTC/- del 0.700 1.000 1 2014 2014