rs142714816

This variant is located in the ALB gene.

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GWAS Catalog Trait Associations (5)

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

calcium measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.39
p 4.0e-18
N 399,133
Large GWAS
multi-ancestry
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 G
OR 0.42
p 2.0e-13
N 355,605
Major Consortium StudyLarge GWAS
multi-ancestry
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.40
p 7.0e-15
N 325,659
Major Consortium StudyLarge GWAS
multi-ancestry

cysteine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 1.47
p 3.0e-17
N 14,296
Large GWAS
European

X-12462 measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 1.42
p 4.0e-16
N 14,296
Large GWAS
European

X-14056 measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 1.22
p 2.0e-12
N 14,296
Large GWAS
European
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ClinVar annotation

Conflicting Classifications
2 submitters1 publication

Hyperthyroxinemia, familial dysalbuminemic; not provided

View on ClinVar →

About ALB

This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]

View all ALB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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