rs61749409, 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 94062710 missense variant G/A snv 4.4E-05 2.1E-05 0.810 1.000 25 1997 2017
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05 0.710 1.000 2 1999 2014
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05 0.700 1.000 6 1999 2017
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05 0.700 1.000 6 1999 2017