rs778234759, ABCA4

N. diseases: 3
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.
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 0.700 1.000 2 2013 2019
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 0.700 1.000 1 2019 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 0.700 1.000 1 2013 2013