rs78132596

This is a intron variant variant in the C1orf185 gene.

GWAS Catalog Trait Associations (4)

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

parathyroid disease

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.45
p 2.0e-12
N 120,473
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

hyperparathyroidism

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.45
p 8.0e-12
N 120,584
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

calcium measurement

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.19
p 2.0e-48
N 355,606
Major Consortium StudyLarge GWAS
multi-ancestry

Hypercalcemia

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.47
p 3.0e-13
N 120,083
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

About C1orf185

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all C1orf185 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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