rs62193162

This is a intron variant variant in the SEPTIN2 gene.

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GWAS Catalog Trait Associations (4)

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

alkaline phosphatase measurement

Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele T
OR 0.00
p 9.0e-16
N 437,438
Large GWAS
European

C-reactive protein measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 2.0e-12
N 436,491
Large GWAS
multi-ancestry

serum albumin amount

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele A
OR 0.11
p 5.0e-12
N 104,632
Major Consortium StudyLarge GWAS
European

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele T
OR 0.00
p 3.0e-9
N 368,929
Large GWAS
European

About SEPTIN2

Enables identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; cytoskeleton-dependent cytokinesis; and smoothened signaling pathway. Predicted to act upstream of or within regulation of L-glutamate import across plasma membrane and regulation of protein localization. Located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and sperm annulus. Part of septin complex. [provided by Alliance of Genome Resources, Jul 2025]

View all SEPTIN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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