rs2575876

This is a regulatory region variant variant in the ABCA1 gene.

▶

GWAS Catalog Trait Associations (50)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

high density lipoprotein cholesterol measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)

Allele A

OR 0.11

p 2.0e-201

N 288,127

Large GWAS

East Asian

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)

Allele A

OR —

β 0.021

p 3.0e-54

N 71,394

Large GWAS

multi-ancestry

Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)

Allele A

OR 1.42

p 5.0e-64

N 58,701

Large GWAS

East Asian

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele A

OR 0.08

p 1.0e-23

N 40,963

Large GWAS

South Asian

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)

Allele A

OR 0.09

p 2.0e-34

N 38,000

Large GWAS

South Asian

Lu X et al. “Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.” Circulation. Cardiovascular Genetics 9(1):37-44 (2016)

Allele A

OR 1.01

p 4.0e-13

N 8,344

Large GWAS

East Asian

Riveros-Mckay F et al. “The influence of rare variants in circulating metabolic biomarkers.” Plos Genetics 16(3):e1008605 (2020)

Allele A

OR 0.14

p 8.0e-13

N 7,142

Large GWAS

European

alcohol drinking, high density lipoprotein cholesterol measurement

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)

Allele A

OR —

p 6.0e-162

N 127,326

Large GWAS

multi-ancestry

total cholesterol measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)

Allele A

OR 0.07

p 4.0e-97

N 288,127

Large GWAS

East Asian

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.05

p 1.0e-56

N 397,478

Major Consortium StudyLarge GWAS

European

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)

Allele A

OR 0.04

p 1.0e-32

N 297,626

Major Consortium StudyLarge GWAS

multi-ancestry

Flanagan J et al. “Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.” Communications Biology 7(1):1665 (2024)

Allele A

OR 0.06

p 7.0e-38

N 181,927

Large GWAS

East Asian

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.05

p 3.0e-43

N 135,808

Large GWAS

East Asian

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele A

OR 0.04

p 9.0e-9

N 40,963

Large GWAS

South Asian

Cheng S et al. “The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.” Cell Discovery 9(1):75 (2023)

Allele A

OR 0.10

p 5.0e-8

N 10,241

Large GWAS

East Asian

Allele A

OR 3.22

p 1.0e-16

N 8,344

Large GWAS

East Asian

free cholesterol to total lipids in very large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele A

OR 0.05

p 3.0e-62

N 241,027

Large GWAS

European

triglycerides in very large HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele A

OR 0.07

p 1.0e-53

N 136,016

Large GWAS

multi-ancestry

HDL cholesterol change measurement, physical activity

Kilpeläinen TO et al. “Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.” Nature Communications 10(1):376 (2019)

Allele A

OR —

p 9.0e-51

N 120,979

Large GWAS

multi-ancestry

sphingomyelin measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele A

OR 0.07

p 2.0e-44

N 126,671

Large GWAS

multi-ancestry

apolipoprotein A 1 measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele A

OR 0.06

p 8.0e-40

N 136,016

Large GWAS

multi-ancestry

cholesteryl esters to total lipids in small VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele A

OR 0.03

p 9.0e-39

N 450,015

Large GWAS

multi-ancestry

choline measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele A

OR 0.06

p 4.0e-35

N 136,016

Large GWAS

multi-ancestry

▶

ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

A novel intronic polymorphism of ABCA1 gene reveals risk for sporadic Alzheimer's disease in Chinese

AssociationN=558Leung Wing Chu et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Case-control study examining ABCA1 gene polymorphisms in relation to sporadic Alzheimer's disease in 279 Chinese AD patients and 279 controls. Three SNPs in the same linkage disequilibrium block showed significant association: rs2297404 (OR = 1.88, 95% CI 1.23-2.87, P = 0.003), rs2230808 (OR = 1.53, 95% CI 1.07-2.19, P = 0.025), and rs2020927 (P = 0.053). Haplotype analysis revealed that haplotype CAC was overrepresented in AD patients (32.3% vs 20.2% in controls), suggesting ABCA1 variants may influence AD disease risk.

Traits studied:Alzheimer's disease

PubMed DOI Metascience Observatory

About ABCA1

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]

rs2575876

GWAS Catalog Trait Associations (50)

high density lipoprotein cholesterol measurement

alcohol drinking, high density lipoprotein cholesterol measurement

total cholesterol measurement

free cholesterol to total lipids in very large HDL percentage

triglycerides in very large HDL measurement

HDL cholesterol change measurement, physical activity

sphingomyelin measurement

apolipoprotein A 1 measurement

cholesteryl esters to total lipids in small VLDL percentage

choline measurement

ClinVar annotation

Research that mentions this SNP (1)

About ABCA1

Community Wiki

Comments