Source: CLINVAR

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: rs1800728
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 17 2000 2019
dbSNP: rs1800728
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.700 1.000 10 2000 2014
dbSNP: rs1800728
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.700 1.000 2 2005 2019
dbSNP: rs1800728
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 2 2005 2016
dbSNP: rs1800728
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs1800728
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		0.700 1.000 1 2016 2016
dbSNP: rs1800728
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		0.700 0
dbSNP: rs1800728
rs1800728
ABCA4
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		0.700 0