rs3170740

This variant is located in the ATP13A2 gene.

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GWAS Catalog Trait Associations (3)

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

body height

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.03
p 2.0e-32
N 165,056
Large GWAS
East Asian

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele C
OR —
β 0.013
p 2.0e-9
N 684,122
Large GWAS
European

body mass index

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.01
p 1.0e-8
N 523,818
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
16 submitters4 publications

not specified; Kufor-Rakeb syndrome; not provided; Kufor-Rakeb syndrome;Autosomal recessive spastic paraplegia type 78; Autosomal recessive spastic paraplegia type 78; Inborn genetic diseases

View on ClinVar →
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Research that mentions this SNP (1)

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ATP13A2variability in Parkinson disease
AssociationN=797Carles Vilariño-Güell et al.(2009)· Human Mutation

Comprehensive sequencing of ATP13A2 in 89 Tunisian familial parkinsonism probands identified 37 novel variants but found no segregation with disease within families and no significant association with non-familial Parkinson disease in 240 cases and 372 controls, nor evidence of elevated ATP13A2 mRNA expression in PD brains. This study concludes ATP13A2 genetic variability is unlikely to contribute to sporadic or familial Parkinson disease.

Traits studied:Familial parkinsonismKufor-Rakeb syndromeNon-familial Parkinson diseaseParkinson disease
PubMedDOIMetascience Observatory

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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