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: rs61750639
rs61750639
ABCA4
0.882 0.080 1 94007710 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61750639
rs61750639
ABCA4
0.882 0.080 1 94007710 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 1.000 2 1997 2009