Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1762111
rs1762111
ABCA4
0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 0 1997 2019
dbSNP: rs1762111
rs1762111
ABCA4
0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 0
dbSNP: rs1762111
rs1762111
ABCA4
0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 0