ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
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: rs2853578
rs2853578 		1.000 0.120 9 104831027 missense variant T/A;C snv 4.0E-06 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 1 2008 2008
dbSNP: rs137854494
rs137854494 		1.000 0.120 9 104806276 missense variant A/G snv 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs137854495
rs137854495 		1.000 0.120 9 104822514 missense variant G/A snv 1.2E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs137854497
rs137854497 		1.000 0.120 9 104804668 missense variant G/A snv 4.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs137854500
rs137854500 		1.000 0.120 9 104814154 missense variant C/T snv 2.4E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs137854501
rs137854501 		1.000 0.120 9 104786940 missense variant G/A snv 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs28937313
rs28937313 		0.882 0.160 9 104822520 missense variant T/C snv 8.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs28937314
rs28937314 		1.000 0.120 9 104822521 missense variant T/C;G snv
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 20 1999 2013
dbSNP: rs1883025
rs1883025 		0.807 0.120 9 104902020 intron variant C/T snv 0.28
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 12 2009 2019
dbSNP: rs12686004
rs12686004 		1.000 0.040 9 104891145 intron variant G/A snv 9.1E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 5 2011 2019
dbSNP: rs1883025
rs1883025 		0.807 0.120 9 104902020 intron variant C/T snv 0.28
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 5 2010 2018
dbSNP: rs2575876
rs2575876 		9 104903458 intron variant G/A snv 0.24
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2012 2019
dbSNP: rs2575876
rs2575876 		9 104903458 intron variant G/A snv 0.24
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2012 2018
dbSNP: rs3890182
rs3890182 		0.925 0.120 9 104885374 intron variant G/A;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2008 2019
dbSNP: rs3905000
rs3905000 		0.925 0.080 9 104894789 intron variant G/A snv 0.14
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2009 2019
dbSNP: rs9282541
rs9282541 		0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2008 2019
dbSNP: rs2515629
rs2515629 		1.000 0.040 9 104832083 intron variant A/G snv 0.16
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 3 2011 2019
dbSNP: rs11789603
rs11789603 		9 104884738 intron variant C/T snv 0.11
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 2 2012 2018
dbSNP: rs12686004
rs12686004 		1.000 0.040 9 104891145 intron variant G/A snv 9.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs1883025
rs1883025 		0.807 0.120 9 104902020 intron variant C/T snv 0.28
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs2575876
rs2575876 		9 104903458 intron variant G/A snv 0.24
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.800 1.000 1 2012 2012
dbSNP: rs4149268
rs4149268 		1.000 0.040 9 104884939 intron variant C/T snv 0.46
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 1 2008 2008
dbSNP: rs1883025
rs1883025 		0.807 0.120 9 104902020 intron variant C/T snv 0.28
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.740 0.600 5 2011 2018
dbSNP: rs137854496
rs137854496 		1.000 0.120 9 104831048 missense variant C/A;G snv 5.6E-05; 4.0E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.720 1.000 22 1999 2013
dbSNP: rs137854498
rs137854498 		1.000 0.120 9 104798504 missense variant G/A;T snv 8.0E-06; 8.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 20 1999 2013