ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553196583
rs1553196583 		0.925 0.040 1 94111453 frameshift variant T/- delins
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0
dbSNP: rs1553196583
rs1553196583 		0.925 0.040 1 94111453 frameshift variant T/- delins
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs1557783989
rs1557783989 		1.000 1 94055109 splice donor variant A/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs1557787756
rs1557787756 		1 94063158 stop gained G/A snv
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.700 0
dbSNP: rs1762111
rs1762111 		0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1762111
rs1762111 		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 		Eye Diseases 0.700 0
dbSNP: rs1800548
rs1800548 		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 		Eye Diseases 0.700 0
dbSNP: rs1800548
rs1800548 		0.925 0.040 1 94077833 missense variant C/T snv 8.3E-04 8.9E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs1800549
rs1800549 		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 		Eye Diseases 0.700 0
dbSNP: rs1800550
rs1800550 		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 		Eye Diseases 0.700 0
dbSNP: rs1800551
rs1800551 		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 		Eye Diseases 0.700 0
dbSNP: rs1800552
rs1800552 		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 		Eye Diseases 0.700 0
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		Eye Diseases 0.700 0
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C1970573
Disease: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1800728
rs1800728 		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 		Eye Diseases 0.700 0
dbSNP: rs1800728
rs1800728 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1801269
rs1801269 		0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1801269
rs1801269 		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 		Eye Diseases 0.800 0
dbSNP: rs1801269
rs1801269 		0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs200692438
rs200692438 		0.925 0.080 1 94060733 missense variant A/C snv 3.8E-04 3.2E-04
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs2297669
rs2297669 		1.000 1 94001069 missense variant G/A;T snv 1.6E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs281865377
rs281865377 		0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs281865377
rs281865377 		0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs281865377
rs281865377 		0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs28938473
rs28938473 		0.882 0.040 1 94007731 missense variant G/A snv 3.0E-03 3.6E-03
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.700 0