rs61751404, ABCA4

N. diseases: 4
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 0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.800 1.000 23 1997 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.700 1.000 3 2000 2001
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.700 1.000 1 1998 1998
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.700 1.000 1 2016 2016