rs61751399, 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 0.882 0.080 1 94041367 missense variant C/T snv 2.4E-05 2.1E-05 0.800 1.000 19 1997 2014
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.882 0.080 1 94041367 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 3 2000 2001
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 1 94041367 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 1 1999 1999