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: rs1064793014
rs1064793014 		1 94007707 missense variant T/C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs11806129
rs11806129 		1 94016821 intron variant A/G;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11806129
rs11806129 		1 94016821 intron variant A/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11806129
rs11806129 		1 94016821 intron variant A/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12087003
rs12087003 		1 94037627 intron variant A/G snv 6.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12087003
rs12087003 		1 94037627 intron variant A/G snv 6.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12087003
rs12087003 		1 94037627 intron variant A/G snv 6.3E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
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: 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: 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: rs17110922
rs17110922 		1 94043489 intron variant A/T snv 2.5E-03 9.9E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17110922
rs17110922 		1 94043489 intron variant A/T snv 2.5E-03 9.9E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs61752419
rs61752419 		1 94042786 stop gained C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2001 2001
dbSNP: rs869312184
rs869312184 		1 94048898 frameshift variant C/- delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2016 2016
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: 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: rs1557787756
rs1557787756 		1 94063158 stop gained G/A snv
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.700 0
dbSNP: rs776757706
rs776757706 		1 94014688 stop gained C/T snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853396
rs878853396 		1 94062641 stop gained G/A;C snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs878853397
rs878853397 		1 94043428 frameshift variant T/- delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye 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: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.830 1.000 19 1997 2019
dbSNP: rs1800553
rs1800553 		0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.730 1.000 11 1997 2012
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: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 5 2000 2016
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