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: rs1801269
rs1801269
ABCA4
0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.800 0
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
dbSNP: rs61750202
rs61750202
ABCA4
0.925 0.040 1 94055245 missense variant C/G;T snv 2.1E-04
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 1.000 2 1997 2009
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
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: rs1800548
rs1800548
ABCA4
0.925 0.040 1 94077833 missense variant C/T snv 8.3E-04 8.9E-04
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 0
dbSNP: rs1800549
rs1800549
ABCA4
0.925 0.040 1 94030497 missense variant G/A snv 4.6E-03 1.6E-03
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 0
dbSNP: rs1800550
rs1800550
ABCA4
1.000 0.040 1 94025039 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 0
dbSNP: rs1800551
rs1800551
ABCA4
1.000 0.040 1 94021887 missense variant C/T snv 8.0E-06
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 0
dbSNP: rs1800552
rs1800552
ABCA4
0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 0