rs281865377, ABCA4

N. diseases: 6
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.
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 1.000 2 2001 2008
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 1.000 1 2001 2001
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 1.000 1 2016 2016
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 0
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 0
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 0