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: rs61750064
rs61750064 		1.000 1 94042878 frameshift variant -/AC ins 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs281865404
rs281865404 		0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 20 1997 2014
dbSNP: rs281865404
rs281865404 		0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs281865404
rs281865404 		0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs281865404
rs281865404 		0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs886044760
rs886044760 		1.000 1 94001107 splice acceptor variant TG/CT mnv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs61751389
rs61751389 		0.925 0.040 1 94007722 frameshift variant C/- del 2.8E-05 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 3 2000 2017
dbSNP: rs61751389
rs61751389 		0.925 0.040 1 94007722 frameshift variant C/- del 2.8E-05 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2000 2000
dbSNP: rs764759172
rs764759172 		0.925 0.040 1 94080692 frameshift variant G/- del
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs764759172
rs764759172 		0.925 0.040 1 94080692 frameshift variant G/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2011 2011
dbSNP: rs764759172
rs764759172 		0.925 0.040 1 94080692 frameshift variant G/- del
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs863223338
rs863223338 		1.000 0.080 1 94044736 frameshift variant A/- del
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs61751389
rs61751389 		0.925 0.040 1 94007722 frameshift variant C/- del 2.8E-05 7.0E-06
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.700 0
dbSNP: rs61751389
rs61751389 		0.925 0.040 1 94007722 frameshift variant C/- del 2.8E-05 7.0E-06
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		Eye Diseases 0.700 0
dbSNP: rs62642560
rs62642560 		1.000 0.080 1 94051669 frameshift variant AG/- del
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: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 2001 2008
dbSNP: rs62645948
rs62645948 		1.000 1 94111443 frameshift variant -/T delins
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2000 2017
dbSNP: rs886044736
rs886044736 		1.000 1 94040117 frameshift variant -/TGCA delins
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2000 2017
dbSNP: rs1553192432
rs1553192432 		1 94060712 frameshift variant -/C delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1557787559
rs1557787559 		1.000 0.080 1 94062749 frameshift variant A/- delins
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs281865377
rs281865377 		0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2001 2001
dbSNP: rs281865377
rs281865377 		0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs387906385
rs387906385 		0.925 0.080 1 94042877 frameshift variant -/CA delins 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 1997 1997
dbSNP: rs387906385
rs387906385 		0.925 0.080 1 94042877 frameshift variant -/CA delins 7.0E-06
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs61750566
rs61750566 		1.000 1 94019616 frameshift variant TG/- delins
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 1999 1999