ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2853578
rs2853578
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0039292
Disease:
Tangier Disease 		0.810 GeneticVariation BEFREE Previously, we showed that an ABCA1 Q597R mutant (QR) identified in TD is retained in the endoplasmic reticulum. 18343215 2008
dbSNP: rs2853578
rs2853578
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0039292
Disease:
Tangier Disease 		0.810 GeneticVariation UNIPROT
dbSNP: rs2853578
rs2853578
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0039292
Disease:
Tangier Disease 		C 0.810 CausalMutation CLINVAR
dbSNP: rs12686004
rs12686004
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs12686004
rs12686004
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733 2019
dbSNP: rs1883025
rs1883025
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
dbSNP: rs1883025
rs1883025
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1883025
rs1883025
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733 2019
dbSNP: rs2515629
rs2515629
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs2575876
rs2575876
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
dbSNP: rs2575876
rs2575876
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs3890182
rs3890182
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs3905000
rs3905000
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs9282541
rs9282541
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs11789603
rs11789603
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs12686004
rs12686004
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs12686004
rs12686004
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1883025
rs1883025
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1883025
rs1883025
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1883025
rs1883025
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.800 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs2575876
rs2575876
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		A 0.800 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs2575876
rs2575876
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.800 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs3905000
rs3905000
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs3905000
rs3905000
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASCAT Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes. 29615537 2018
dbSNP: rs9282541
rs9282541
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0392885
Disease:
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018