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: rs281865407
rs281865407 		1.000 1 93996137 missense variant C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs749526785
rs749526785 		0.925 0.080 1 93997842 splice region variant GCCCCAGGGCCAACT/- delins 6.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2010 2010
dbSNP: rs749526785
rs749526785 		0.925 0.080 1 93997842 splice region variant GCCCCAGGGCCAACT/- delins 6.8E-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: rs61748521
rs61748521 		1.000 1 93997869 missense variant G/A;C snv 4.0E-06; 1.1E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs886044764
rs886044764 		1.000 1 93997877 missense variant T/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs61750659
rs61750659 		1.000 1 93997904 missense variant A/G snv 6.8E-05 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61753046
rs61753046 		0.925 0.040 1 93997932 stop gained G/A;T snv 5.2E-05; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 5 2000 2017
dbSNP: rs61753046
rs61753046 		0.925 0.040 1 93997932 stop gained G/A;T snv 5.2E-05; 4.0E-06
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 1.000 1 2000 2000
dbSNP: rs886044763
rs886044763 		1.000 1 93997943 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2000 2017
dbSNP: rs61753045
rs61753045 		1.000 1 93997981 stop gained G/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 3 2000 2017
dbSNP: rs1800555
rs1800555 		1.000 0.040 1 93998061 missense variant C/T snv 1.1E-02 1.0E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.030 0.667 3 2000 2015
dbSNP: rs886044762
rs886044762 		1.000 1 93998075 missense variant T/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2009 2017
dbSNP: rs281865405
rs281865405 		1.000 1 94000836 missense variant T/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61751384
rs61751384 		0.925 0.080 1 94000866 missense variant C/T snv 2.4E-05 4.9E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 25 1997 2017
dbSNP: rs61751384
rs61751384 		0.925 0.080 1 94000866 missense variant C/T snv 2.4E-05 4.9E-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 1.000 3 2000 2001
dbSNP: rs61750656
rs61750656 		1.000 1 94000867 missense variant A/G 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: rs61750655
rs61750655 		1.000 1 94000869 missense variant C/A;T snv 5.6E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61750654
rs61750654 		0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 1999 1999
dbSNP: rs61750654
rs61750654 		0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.710 1.000 1 2002 2002
dbSNP: rs61750654
rs61750654 		0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61750654
rs61750654 		0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61750654
rs61750654 		0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61753044
rs61753044 		1.000 0.080 1 94000878 missense variant C/T 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: rs61750653
rs61750653 		1.000 1 94000900 missense variant G/A;T snv 8.0E-06; 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61750652
rs61750652 		1.000 1 94000924 missense variant C/T 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