rs2391388
This is a intron variant variant in the ALG14 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
fatty acid amount
Wu JH et al. “Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.” Circulation. Cardiovascular Genetics 6(2):171-83 (2013)
Allele C
OR 0.18
p 3.0e-11
N 8,961
Major Consortium StudyLarge GWAS
European
lysophosphatidylcholine 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 6.36
p 2.0e-10
N 16,839
Large GWAS
European
level of phosphatidylcholine
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 6.64
p 3.0e-11
N 16,835
Large GWAS
European
About ALG14
This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
View all ALG14 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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