rs878853329, RP1

N. diseases: 1
Source: CLINVAR ×
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
218 8 54625475 frameshift variant GAAA/- delins 0.700 0