rs3738814
This is a regulatory region variant variant in the ATP13A2 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
He M et al. “Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.” Human Molecular Genetics 24(6):1791-800 (2015)
Allele A
OR 0.06
p 1.0e-24
N 36,227
Meta-analysisLarge GWAS
East Asian
Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)
Allele A
OR 0.04
p 1.0e-12
N 67,452
Large GWAS
East Asian
BMI-adjusted hip circumference
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 0.03
p 4.0e-20
N 219,872
Major Consortium StudyLarge GWAS
European
neuroimaging measurement
Bhatt RR et al. “The Genetic Architecture of the Human Corpus Callosum and its Subregions.” Nature Communications 16(1):9708 (2025)
Allele A
OR 0.50
p 2.0e-13
N 46,685
Large GWAS
European
cardiovascular measurement
Kany S et al. “Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.” Nature Genetics 58(1):47-56 (2026)
Allele A
OR 0.04
p 2.0e-10
N 59,569
Large GWAS
European
BMI-adjusted waist circumference
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele A
OR 0.04
p 4.0e-10
N 122,328
Meta-analysisLarge GWAS
multi-ancestry
Varicose veins
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.06
p 8.0e-9
N 638,428
Large GWAS
multi-ancestry
▶ClinVar annotation
About ATP13A2
This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
View all ATP13A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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