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: 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: rs1057518955
rs1057518955 		1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518955
rs1057518955 		1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.700 0
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: 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: 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: 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: rs61750126
rs61750126 		0.925 0.080 1 94040048 missense variant A/C snv 6.7E-03 2.8E-02
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 24 1997 2017
dbSNP: rs61748526
rs61748526 		1.000 1 94111517 missense variant A/C snv 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 19 1997 2014
dbSNP: rs61749456
rs61749456 		1.000 1 94044622 missense variant A/C snv 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61750560
rs61750560 		1.000 1 94021304 missense variant A/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61752433
rs61752433 		1.000 1 94030462 missense variant A/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs62646868
rs62646868 		1.000 1 94063303 missense variant A/C snv 4.0E-06 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61754024
rs61754024 		1.000 1 94062586 missense variant A/C snv 1.5E-03 1.7E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 5 2007 2017
dbSNP: rs61751420
rs61751420 		1.000 1 94080562 missense variant A/C snv 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 3 1998 2001
dbSNP: rs61753034
rs61753034 		1.000 1 94007727 missense variant A/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 3 1998 2001
dbSNP: rs61753039
rs61753039 		1.000 0.080 1 94001961 missense variant A/C snv
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 3 2000 2001
dbSNP: rs200692438
rs200692438 		0.925 0.080 1 94060733 missense variant A/C snv 3.8E-04 3.2E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2007 2017
dbSNP: rs886044720
rs886044720 		0.925 0.080 1 94112973 missense variant A/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2004 2017
dbSNP: rs1553190664
rs1553190664 		1.000 1 94043445 stop gained A/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs886044719
rs886044719 		1.000 1 94113047 missense variant A/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044720
rs886044720 		0.925 0.080 1 94112973 missense variant A/C snv
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2004 2004