rs10971259

This variant is located in the APTX gene.

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GWAS Catalog Trait Associations (1)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.01
p 8.0e-12
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
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Research that mentions this SNP (1)

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Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus
AssociationN=10,543Paula S. Ramos et al.(2011)· Arthritis &amp; Rheumatism

A three-stage genetic association study of interferon pathway-related genes identifies multiple novel loci associated with systemic lupus erythematosus (SLE). The study evaluated 1,754 genes in two discovery/replication cohorts (939 SLE cases, 3,398 controls) with confirmation in an independent cohort. Novel confirmed associations include CD44 (rs507230, P = 3.98×10⁻¹², OR = 0.71), pleiotrophin/PTN (rs919581, P = 5.38×10⁻⁴), DNAJA1 (rs10971259, P = 6.31×10⁻³), and KPNA1 (rs6810306, P = 4.91×10⁻²).

Traits studied:SLESystemic Lupus Erythematosus
PubMedDOIMetascience Observatory

About APTX

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]

View all APTX variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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