rs61750654, 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.
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.710 1.000 1 2002 2002
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.700 1.000 1 1999 1999
Abnormal vision
CUI: C3665386
Disease: Abnormal vision
6 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
16 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0