rs141505249

This variant is located in the GPT gene.

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GWAS Catalog Trait Associations (1)

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

serum alanine aminotransferase amount

Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)

Allele C

OR 0.22

p —

N 1,010,710

Large GWAS

European

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

Allele C

OR 1.22

p —

N 494,681

Large GWAS

multi-ancestry

Vujkovic M et al. “A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.” Nature Genetics 54(6):761-771 (2022)

Allele C

OR 2.02

p 7.0e-61

N 218,595

Large GWAS

multi-ancestry

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ClinVar annotation

Likely Benign★★★☆

3 submitters1 publication

not provided; Ovarian serous cystadenocarcinoma; Nonpapillary renal cell carcinoma; Gastric cancer; Cervical cancer; Uterine carcinosarcoma; Thymoma; Thyroid cancer, nonmedullary, 1; Malignant tumor of urinary bladder

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About GPT

This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]

rs141505249

GWAS Catalog Trait Associations (1)

serum alanine aminotransferase amount

ClinVar annotation

About GPT

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