rs1057518767, ABCA4

N. diseases: 5
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.
Atrophic retina
CUI: C0521694
Disease: Atrophic retina
2 0.851 0.120 1 94098874 missense variant A/T snv 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.851 0.120 1 94098874 missense variant A/T snv 0.700 0
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
16 0.851 0.120 1 94098874 missense variant A/T snv 0.700 0
Scotoma, Central
CUI: C0152191
Disease: Scotoma, Central
2 0.851 0.120 1 94098874 missense variant A/T snv 0.700 0
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.851 0.120 1 94098874 missense variant A/T snv 0.700 0