rs76850691
This is a protein-altering variant in the GOT1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
aspartate aminotransferase measurement
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele C
OR 0.55
p —
N 928,679
Large GWAS
multi-ancestry
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 C
OR 0.54
p 2.0e-184
N 288,127
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 C
OR 0.52
p 3.0e-240
N 150,068
Large GWAS
East Asian
Moon S et al. “The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.” Scientific Reports 9(1):1382 (2019)
Allele C
OR 0.15
p 9.0e-10
N 6,949
Large GWAS
East Asian
aspartate aminotransferase to alanine aminotransferase ratio
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 0.53
p 6.0e-91
N 54,221
Major Consortium StudyLarge GWAS
Hispanic or Latin American
About GOT1
Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]
View all GOT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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