rs61730011

This is a variant in the TBX15 gene that changes a methionine to an arginine.

GWAS Catalog Trait Associations (4)

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

body height

Allele A
OR 0.04
p 4.0e-39
N 405,540
Large GWAS
European

BMI-adjusted hip circumference

Allele C
OR 0.04
p 2.0e-8
N 219,872
Major Consortium StudyLarge GWAS
European

BMI-adjusted waist circumference

Allele C
OR 0.06
p 1.0e-14
N 186,825
Major Consortium StudyLarge GWAS
European

BMI-adjusted waist-hip ratio

Allele C
OR 0.04
p 2.0e-14
N 344,369
Large GWAS
multi-ancestry
Allele C
OR 0.06
p 6.0e-15
N 186,825
Major Consortium StudyLarge GWAS
European

ClinVar annotation

Benign★★★
5 submitters2 publications

Pelviscapular dysplasia; not specified

View on ClinVar →

About TBX15

This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]

View all TBX15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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