rs6488898

This is a regulatory region variant variant in the ATP6V0A2 gene.

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GWAS Catalog Trait Associations (4)

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

BMI-adjusted waist-hip ratio

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)

Allele G

OR 0.04

p 2.0e-16

N 219,872

Major Consortium StudyLarge GWAS

European

BMI-adjusted waist circumference

Allele G

OR 0.04

p 3.0e-12

N 219,872

Major Consortium StudyLarge GWAS

European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele G

OR 0.02

p 3.0e-11

N 1,122,049

Large GWAS

European

adiponectin measurement

Dastani Z et al. “Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.” Plos Genetics 8(3):e1002607 (2012)

Allele G

OR —

β 0.053

p 3.0e-10

N 29,347

Meta-analysisLarge GWAS

European

About ATP6V0A2

The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]

rs6488898

GWAS Catalog Trait Associations (4)

BMI-adjusted waist-hip ratio

BMI-adjusted waist circumference

body mass index

adiponectin measurement

About ATP6V0A2

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