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: rs62654397
rs62654397 		1.000 1 94111537 missense variant G/A;C snv 8.0E-06
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		Eye 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: C3665386
Disease: Abnormal vision
Abnormal vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
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: 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: rs1800549
rs1800549 		0.925 0.040 1 94030497 missense variant G/A snv 4.6E-03 1.6E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs61750120
rs61750120 		0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs61750200
rs61750200 		0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs752160946
rs752160946 		1.000 0.040 1 94010868 missense variant C/G;T snv 4.0E-06; 2.8E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs768435443
rs768435443 		0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2019 2019
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: rs1057518767
rs1057518767 		0.851 0.120 1 94098874 missense variant A/T snv
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		Eye Diseases 0.700 0
dbSNP: rs398123339
rs398123339 		0.851 0.120 1 94113068 splice acceptor variant T/C snv 4.0E-06
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		Eye Diseases 0.700 0
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: rs61750200
rs61750200 		0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06
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: rs886044720
rs886044720 		0.925 0.080 1 94112973 missense variant A/C snv
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: rs387906385
rs387906385 		0.925 0.080 1 94042877 frameshift variant -/CA delins 7.0E-06
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
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: rs560426
rs560426 		0.851 0.200 1 94087882 intron variant C/T snv 0.53
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 < 0.001 1 2010 2010
dbSNP: rs481931
rs481931 		0.882 0.120 1 94104460 intron variant G/T snv 0.32
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs560426
rs560426 		0.851 0.200 1 94087882 intron variant C/T snv 0.53
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs66515264
rs66515264 		0.882 0.120 1 94092554 intron variant G/A;T snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs560426
rs560426 		0.851 0.200 1 94087882 intron variant C/T snv 0.53
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2010 2010
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: rs481931
rs481931 		0.882 0.120 1 94104460 intron variant G/T snv 0.32
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 2 2010 2017
dbSNP: rs560426
rs560426 		0.851 0.200 1 94087882 intron variant C/T snv 0.53
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.710 0.500 2 2010 2012