rs139097404

This is a upstream gene variant variant in the CATSPER2 gene.

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GWAS Catalog Trait Associations (21)

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

glutamine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.08
p 2.0e-29
N 450,015
Large GWAS
multi-ancestry

lipoprotein A measurement

Said MA et al. “Genome-Wide Association Study and Identification of a Protective Missense Variant on Lipoprotein(a) Concentration: Protective Missense Variant on Lipoprotein(a) Concentration-Brief Report.” Arteriosclerosis, Thrombosis, and Vascular Biology 41(5):1792-1800 (2021)
Allele T
OR 0.05
p 4.0e-28
N 371,212
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele T
OR 0.10
p 9.0e-26
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry

serum gamma-glutamyl transferase measurement

Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)
Allele C
OR 0.02
p 7.0e-22
N 875,069
Large GWAS
European
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele C
OR 0.02
p 9.0e-22
N 437,194
Large GWAS
European

Red cell distribution width

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.05
p 5.0e-18
N 531,774
Large GWAS
European

level of cell surface glycoprotein MUC18 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.13
p 3.0e-15
N 47,745
Large GWAS
European

corticosteroid-binding globulin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.13
p 5.0e-14
N 47,745
Large GWAS
European

SPARC-like protein 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.10
p 1.0e-13
N 47,745
Large GWAS
European

transmembrane protease serine 5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.09
p 1.0e-13
N 47,745
Large GWAS
European

About CATSPER2

This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by GeneID:110006325. Related pseudogenes are found next to this locus on chromosome 15 and on chromosome 5. [provided by RefSeq, Mar 2017]

View all CATSPER2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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