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: rs76157638
rs76157638 		0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.830 1.000 37 1997 2019
dbSNP: rs61751374
rs61751374 		0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.820 1.000 32 1997 2019
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: rs201471607
rs201471607 		0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.810 1.000 26 1997 2019
dbSNP: rs61750645
rs61750645 		0.925 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 23 1997 2019
dbSNP: rs61751403
rs61751403 		0.925 0.080 1 94021339 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 23 1997 2019
dbSNP: rs61751404
rs61751404 		0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 23 1997 2019
dbSNP: rs61749412
rs61749412 		0.925 0.080 1 94062695 missense variant C/A;G;T snv 2.8E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 21 1997 2019
dbSNP: rs61750130
rs61750130 		0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2019
dbSNP: rs61750200
rs61750200 		0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2019
dbSNP: rs61751412
rs61751412 		1.000 1 94111526 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 20 1997 2019
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.830 1.000 19 1997 2019
dbSNP: rs1800728
rs1800728 		0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 17 2000 2019
dbSNP: rs1800552
rs1800552 		0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 8 1997 2019
dbSNP: rs61751407
rs61751407 		0.882 0.080 1 94010795 splice region variant C/A;T snv 3.1E-04 3.5E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 7 1998 2019
dbSNP: rs1762111
rs1762111 		0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 6 1997 2019
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.060 0.833 6 1999 2019
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.720 1.000 4 1997 2019
dbSNP: rs1801466
rs1801466 		1.000 1 94010911 missense variant T/A snv 4.3E-02 4.1E-02
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.730 1.000 3 2018 2019
dbSNP: rs1801466
rs1801466 		1.000 1 94010911 missense variant T/A snv 4.3E-02 4.1E-02
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.030 1.000 3 2018 2019
dbSNP: rs1762111
rs1762111 		0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 2 1997 2019
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.020 1.000 2 2007 2019
dbSNP: rs1800728
rs1800728 		0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 2005 2019
dbSNP: rs61751374
rs61751374 		0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 2 2008 2019
dbSNP: rs61751383
rs61751383 		0.827 0.080 1 94005500 stop gained G/A snv 2.8E-05 1.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 1999 2019