rs1553186896, ABCA4

N. diseases: 2
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 1.000 1 94005490 missense variant A/C;G snv 0.700 1.000 1 2012 2012
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 1.000 1 94005490 missense variant A/C;G snv 0.700 1.000 1 2019 2019