rs17783344

This is a protein-altering variant in the GCA gene.

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GWAS Catalog Trait Associations (2)

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

grancalcin measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.59

p 7.0e-207

N 10,708

Large GWAS

European

level of splicing factor 45 in blood serum

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)

Allele G

OR 0.75

p 3.0e-8

N 200

Small GWAS

European

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Research that mentions this SNP (1)

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The association between the IFIH1 locus and type 1 diabetes

AssociationN=1,767Qu HQ et al.(2008)· Diabetologia

This study validates the association between IFIH1 gene variants and type 1 diabetes in an independent cohort of 589 family trios (1,767 individuals) of mixed European descent. Using family-based association testing, the authors confirmed significant associations for rs2111485 (OR=0.84, p=0.0244) and rs984971 (OR=0.85, p=0.0455), replicating the previously reported IFIH1 locus findings. The results support the role of innate antivirus immunity in type 1 diabetes pathogenesis.

Traits studied:Type 1 diabetes

PubMed DOI Metascience Observatory

About GCA

This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]