rs4227

This is a regulatory region variant variant in the SOX15 gene.

GWAS Catalog Trait Associations (6)

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

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.23
p
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

testosterone measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.09
p 2.0e-217
N 322,594
Major Consortium StudyLarge GWAS
multi-ancestry
Pott J et al. Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. The Journal of Clinical Endocrinology and Metabolism 104(11):5008-5023 (2019)
Allele T
OR 0.07
p 3.0e-8
N 7,643
Large GWAS
European

alkaline phosphatase measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 4.0e-17
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry

HbA1c measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 2.0e-10
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry

IGA glomerulonephritis

Allele G
OR 1.23
p 4.0e-10
N 5,704
Large GWAS
East Asian

IGF-1 measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 3.0e-9
N 353,824
Major Consortium StudyLarge GWAS
multi-ancestry

ClinVar annotation

Benign★★★
3 submitters1 publication

MPDU1-congenital disorder of glycosylation

View on ClinVar →

About SOX15

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]

View all SOX15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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