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: rs1356104318
rs1356104318 		1 94098850 stop gained G/A;C snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs137866734
rs137866734 		1 94074274 intron variant C/T snv 6.8E-03
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 1.000 1 2019 2019
dbSNP: rs139250920
rs139250920 		1.000 0.080 1 94055212 missense variant G/A snv 1.7E-04 2.8E-04
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
dbSNP: rs140482171
rs140482171 		1.000 1 94077712 missense variant C/T snv 7.8E-04 4.1E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2012 2012
dbSNP: rs142253670
rs142253670 		1.000 1 94008252 missense variant C/T snv 9.1E-05 7.0E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 3 2013 2017
dbSNP: rs1435203678
rs1435203678 		1.000 1 94019690 missense variant G/A;C snv 8.0E-06
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2013 2013
dbSNP: rs145525174
rs145525174 		1.000 1 94063218 missense variant C/T snv 2.7E-03 2.4E-03
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 2 2013 2017
dbSNP: rs1457937638
rs1457937638 		1.000 1 94027444 intron variant C/A;T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs145961131
rs145961131 		1.000 1 94062608 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs148460146
rs148460146 		1.000 1 94005469 missense variant C/T snv 3.1E-04 2.6E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs149071415
rs149071415 		1 94047024 missense variant A/G snv 4.0E-05 8.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs150774447
rs150774447 		1.000 1 94111579 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.800 1.000 23 1997 2017
dbSNP: rs150774447
rs150774447 		1.000 1 94111579 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.700 1.000 11 1999 2015
dbSNP: rs1553186509
rs1553186509 		1.000 0.080 1 94001914 missense variant T/C snv
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs1553187160
rs1553187160 		1.000 0.080 1 94007741 splice acceptor variant C/A 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 0
dbSNP: rs1553188588
rs1553188588 		1.000 0.080 1 94021235 splice region variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs1553188916
rs1553188916 		1.000 0.080 1 94025021 stop gained G/A 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 0
dbSNP: rs1553189507
rs1553189507 		1.000 1 94031121 splice acceptor variant C/T snv
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 0
dbSNP: rs1553190559
rs1553190559 		1 94042790 missense variant A/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2013 2013
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: 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: rs1553192682
rs1553192682 		1.000 0.040 1 94063115 missense variant T/C snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2015 2015