rs2293576
This variant is located in the SLC39A13 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body weight
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 1.0e-20
N 394,642
Large GWAS
European
hip circumference
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.02
p 2.0e-9
N 143,480
Large GWAS
multi-ancestry
alcohol use disorder measurement
Sanchez-Roige S et al. “Genome-Wide Association Study Meta-Analysis of the Alcohol Use Disorders Identification Test (AUDIT) in Two Population-Based Cohorts.” The American Journal of Psychiatry 176(2):107-118 (2019)
Allele A
OR 5.83
p 6.0e-9
N 141,932
Meta-analysisLarge GWAS
European
stroke
Traylor M et al. “Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.” The Lancet. Neurology 20(5):351-361 (2021)
Allele G
OR 1.14
p 7.0e-10
N 254,959
Large GWAS
European
waist circumference
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.03
p 2.0e-8
N 143,480
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
7 submitters3 publicationsnot specified; Ehlers-Danlos syndrome, spondylocheirodysplastic type; not provided
View on ClinVar →About SLC39A13
This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
View all SLC39A13 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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