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: rs952499
rs952499 		1.000 0.080 1 94092869 intron variant T/C snv 0.45
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 2 2010 2012
dbSNP: rs951379922
rs951379922 		1.000 0.080 1 94001908 missense variant T/G snv 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: 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: 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: 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: rs886044761
rs886044761 		1.000 1 94001062 missense variant A/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
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: rs886044759
rs886044759 		1.000 1 94001910 missense variant C/T snv 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2013 2017
dbSNP: rs886044758
rs886044758 		0.851 0.080 1 94005511 missense variant A/G snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044758
rs886044758 		0.851 0.080 1 94005511 missense variant A/G snv 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: rs886044758
rs886044758 		0.851 0.080 1 94005511 missense variant A/G snv 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: rs886044758
rs886044758 		0.851 0.080 1 94005511 missense variant A/G snv 4.0E-06
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		Eye Diseases 0.700 0
dbSNP: rs886044756
rs886044756 		1.000 1 94007730 missense variant A/C;G snv 4.0E-06; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044755
rs886044755 		1.000 1 94008758 missense variant A/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044754
rs886044754 		1.000 1 94010858 missense variant C/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044753
rs886044753 		1.000 1 94011288 missense variant G/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044752
rs886044752 		1.000 1 94011333 missense variant T/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044751
rs886044751 		1.000 1 94014640 missense variant G/A snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044750
rs886044750 		0.925 0.080 1 94015738 splice donor variant C/T snv 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2011 2017
dbSNP: rs886044750
rs886044750 		0.925 0.080 1 94015738 splice donor variant C/T snv 7.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886044747
rs886044747 		1.000 1 94019589 stop gained C/T snv 4.2E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044746
rs886044746 		1.000 1 94021279 missense variant G/A snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044745
rs886044745 		1.000 1 94023413 frameshift variant T/- delins
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044742
rs886044742 		1.000 1 94029630 stop gained C/A snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs886044741
rs886044741 		1.000 1 94030433 missense variant C/A snv 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2017 2017