rs61749451, 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 94046922 missense variant G/A;T snv 2.0E-05; 3.6E-05 0.700 1.000 19 1997 2014
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.925 0.080 1 94046922 missense variant G/A;T snv 2.0E-05; 3.6E-05 0.700 1.000 1 2001 2001
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 1 94046922 missense variant G/A;T snv 2.0E-05; 3.6E-05 0.700 1.000 1 2001 2001