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: rs76157638
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.830 1.000 20 1997 2019
dbSNP: rs76157638
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.800 1.000 3 2000 2001