rs2638314
This is a upstream gene variant variant in the GLS2 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
tyrosine measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.07
p 3.0e-45
N 136,016
Large GWAS
multi-ancestry
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele A
OR 9.77
p 2.0e-22
N 86,507
Large GWAS
European
alanine measurement
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele A
OR 12.88
p 6.0e-38
N 86,413
Large GWAS
European
isoleucine measurement
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.04
p 5.0e-14
N 88,326
Large GWAS
European
valine measurement
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele A
OR 6.25
p 4.0e-10
N 85,641
Large GWAS
European
glycine measurement
Wittemans LBL et al. “Assessing the causal association of glycine with risk of cardio-metabolic diseases.” Nature Communications 10(1):1060 (2019)
Allele A
OR 0.04
p 2.0e-8
N 80,003
Large GWAS
European
About GLS2
The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
View all GLS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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