rs61751407, 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 94010795 splice region variant C/A;T snv 3.1E-04 3.5E-04 0.700 1.000 7 1998 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.882 0.080 1 94010795 splice region variant C/A;T snv 3.1E-04 3.5E-04 0.700 1.000 5 1998 2013
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.882 0.080 1 94010795 splice region variant C/A;T snv 3.1E-04 3.5E-04 0.700 1.000 1 2016 2016
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.882 0.080 1 94010795 splice region variant C/A;T snv 3.1E-04 3.5E-04 0.700 0