rs2010099

This is a intron variant variant in the KALRN gene.

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GWAS Catalog Trait Associations (1)

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

blood immunoglobulin amount

Medici M et al. “Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.” Plos Genetics 10(2):e1004123 (2014)
Allele C
OR 0.02
p 3.0e-8
N 12,353
Large GWAS
European
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Research that mentions this SNP (1)

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Thyroid‐associated genetic polymorphisms in relation to breast cancer risk in the Malmö Diet and Cancer Study
AssociationN=4,058Jasmine Brandt et al.(2018)· International Journal of Cancer

This prospective nested case-control study examined 17 single nucleotide polymorphisms related to free thyroxine (fT4) and thyroid peroxidase antibody (TPO-Ab) levels in 865 breast cancer cases and 3,193 controls from the Malmö Diet and Cancer Study. The main findings identified fT4-related SNPs rs2235544 (DIO1 gene, OR for breast cancer risk in low fT4 women) and rs6485050, as well as TPO-Ab-related SNPs rs11675434, rs3094228, rs1033662, rs301806, and rs2071403 as potentially associated with breast cancer risk. The most promising association was rs2235544 (DIO1), where the C allele was associated with lower fT4 levels and increased breast cancer risk, particularly in women with low fT4 levels, suggesting a potential causal relationship.

Traits studied:Breast cancer riskFree thyroxine (fT4) levelsThyroid peroxidase antibodies (TPO-Ab)
PubMedDOIMetascience Observatory

About KALRN

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]

View all KALRN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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