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: rs1553188682
rs1553188682 		1.000 1 94021892 missense variant A/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs1553195472
rs1553195472 		1.000 0.040 1 94098843 missense variant A/C snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		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: rs61750126
rs61750126 		0.925 0.080 1 94040048 missense variant A/C snv 6.7E-03 2.8E-02
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: rs61751385
rs61751385 		1.000 1 94063110 splice donor variant A/C snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs61753034
rs61753034 		1.000 1 94007727 missense variant A/C snv
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.700 0
dbSNP: rs281865400
rs281865400 		1.000 1 94044743 missense variant A/C;G snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61748548
rs61748548 		1.000 1 94080559 missense variant A/C;G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 19 1997 2014
dbSNP: rs61752404
rs61752404 		1.000 1 94056688 missense variant A/C;G snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61751405
rs61751405 		1.000 1 94019580 splice donor variant A/C;G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 4 1997 2017
dbSNP: rs1553186896
rs1553186896 		1.000 1 94005490 missense variant A/C;G snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1553186896
rs1553186896 		1.000 1 94005490 missense variant A/C;G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2019 2019
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: rs61752390
rs61752390 		1.000 1 94080491 stop gained A/C;G;T snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 4 2009 2017
dbSNP: rs4147812
rs4147812 		1.000 0.080 1 94109487 intron variant A/C;T snv
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: rs61751392
rs61751392 		0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 29 1997 2019
dbSNP: rs61750135
rs61750135 		1.000 1 94031027 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 23 1997 2017
dbSNP: rs61750146
rs61750146 		0.851 0.080 1 94029522 missense variant A/G snv 8.2E-06 7.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 23 1997 2017
dbSNP: rs61753020
rs61753020 		1.000 1 94019713 missense variant A/G snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2017
dbSNP: rs61753028
rs61753028 		1.000 1 94015763 missense variant A/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2017
dbSNP: rs61753033
rs61753033 		0.882 0.080 1 94008767 missense variant A/G snv 2.0E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2014
dbSNP: rs61748530
rs61748530 		1.000 1 94111442 missense variant A/G snv 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61749432
rs61749432 		1.000 1 94055308 missense variant A/G snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61749435
rs61749435 		1.000 1 94055152 missense variant A/G snv 1.1E-03 3.8E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014
dbSNP: rs61749444
rs61749444 		1.000 1 94047033 missense variant A/G snv 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 19 1997 2014