rs10502148
This is a regulatory region variant variant in the ALG9 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.
BMI-adjusted waist-hip ratio
Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele T
OR 0.02
p 6.0e-36
N 315,284
Meta-analysisLarge GWAS
European
Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele T
OR 0.02
p 9.0e-34
N 660,648
Large GWAS
European
waist-hip ratio
Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele C
OR —
p 5.0e-8
N 663,598
Large GWAS
European
About ALG9
This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
View all ALG9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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