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: rs2151846
rs2151846 		1.000 0.080 1 94122131 upstream gene variant T/G snv 0.41
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs3789432
rs3789432 		0.925 0.080 1 94109752 intron variant T/C snv 0.33
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs3789451
rs3789451 		1.000 0.080 1 94120772 intron variant C/G;T snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3789452
rs3789452 		1.000 0.080 1 94121945 upstream gene variant T/A snv 0.26
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs3827712
rs3827712 		1.000 0.080 1 94109615 intron variant T/C;G snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs4147811
rs4147811 		1.000 0.080 1 94109500 intron variant C/T snv 0.33
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs4147816
rs4147816 		1.000 0.080 1 94109224 intron variant C/T snv 0.33
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs570926
rs570926 		1.000 0.080 1 94104662 intron variant T/C snv 0.39
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs66515264
rs66515264 		0.882 0.120 1 94092554 intron variant G/A;T snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs113106943
rs113106943 		0.925 0.040 1 94021848 missense variant C/T snv 2.4E-03 2.3E-03
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs41292677
rs41292677 		0.882 0.080 1 94001992 missense variant C/G snv 3.0E-03 3.0E-03
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 1.000 1 1997 1997
dbSNP: rs61753046
rs61753046 		0.925 0.040 1 93997932 stop gained G/A;T snv 5.2E-05; 4.0E-06
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1762111
rs1762111 		0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs201471607
rs201471607 		0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs281865404
rs281865404 		0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs76157638
rs76157638 		0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs768435443
rs768435443 		0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs281865377
rs281865377 		0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs768278935
rs768278935 		0.925 0.080 1 94041249 missense variant C/T snv 2.0E-05 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: 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: rs61751374
rs61751374 		0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2000 2007
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs281865404
rs281865404 		0.851 0.080 1 94014675 missense variant GG/CA mnv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007