rs77262773

This variant is located in the ABCA5 gene.

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GWAS Catalog Trait Associations (16)

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

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele T
OR —
β 0.075
p 4.0e-28
N 684,122
Large GWAS
European

total lipids in small LDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.14
p 5.0e-20
N 136,016
Large GWAS
multi-ancestry

free cholesterol in medium LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.14
p 2.0e-19
N 136,016
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.14
p 2.0e-19
N 136,016
Large GWAS
multi-ancestry

cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.14
p 8.0e-19
N 136,016
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.14
p 4.0e-18
N 136,016
Large GWAS
multi-ancestry

phospholipids in medium LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.14
p 8.0e-18
N 136,016
Large GWAS
multi-ancestry

free cholesterol in small LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.13
p 2.0e-17
N 136,016
Large GWAS
multi-ancestry

remnant cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.13
p 6.0e-16
N 136,016
Large GWAS
multi-ancestry

phospholipids in small LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.12
p 4.0e-15
N 136,016
Large GWAS
multi-ancestry
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ClinVar annotation

Likely Benign
2 submitters

ABCA5-related disorder; Thymoma; Colon adenocarcinoma; Sarcoma; Melanoma; Acute myeloid leukemia; Adrenocortical carcinoma, hereditary; Cervical cancer; Malignant tumor of esophagus; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Uveal melanoma; Colorectal cancer; Ovarian serous cystadenocarcinoma; Nonpapillary renal cell carcinoma; Lung cancer

View on ClinVar →

About ABCA5

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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

View all ABCA5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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