rs61750645, 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 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.800 1.000 23 1997 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.925 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 2008 2013
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.925 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 1997 1997