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: rs28938473
rs28938473
ABCA4
0.882 0.040 1 94007731 missense variant G/A snv 3.0E-03 3.6E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 3 1997 2017
dbSNP: rs28938473
rs28938473
ABCA4
0.882 0.040 1 94007731 missense variant G/A snv 3.0E-03 3.6E-03
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 1.000 2 1997 2009