rs114804066
This variant is located in the AMPD2 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.
apolipoprotein B measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.15
p 3.0e-35
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry
low density lipoprotein cholesterol measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.12
p 3.0e-22
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry
total cholesterol measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.09
p 3.0e-14
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
▶ClinVar annotation
Likely Benign★★★☆
2 submitters1 publicationAbout AMPD2
The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
View all AMPD2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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