rs2364368

This is a intron variant variant in the ALDH1L1 gene.

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GWAS Catalog Trait Associations (5)

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

glycine measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.08
p 1.0e-58
N 90,223
Large GWAS
multi-ancestry
Jia Q et al. “Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.” Journal of the American Heart Association 8(10):e011922 (2019)
Allele A
OR 0.10
p 2.0e-22
N 19,112
Large GWAS
European
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 0.08
p 6.0e-17
N 14,296
Large GWAS
European

metabolite measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.08
p 3.0e-13
N 4,655
Large GWAS
European

propionylglycine 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 0.07
p 3.0e-10
N 14,296
Large GWAS
European

serum alanine aminotransferase amount

Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele A
OR 0.00
p 5.0e-10
N 437,267
Large GWAS
European

mean corpuscular hemoglobin

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.01
p 2.0e-8
N 478,500
Large GWAS
multi-ancestry

About ALDH1L1

The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

View all ALDH1L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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