rs76157638, 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.
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.830 1.000 37 1997 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.800 1.000 3 2000 2001
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.720 1.000 8 1997 2014
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.700 1.000 2 1997 2019
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.700 1.000 1 2019 2019
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.700 1.000 1 2019 2019