rs984971

This variant is located in the GCA gene.

GWAS Catalog Trait Associations (1)

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

psoriasis

Allele A
OR 0.09
p 2.0e-15
N 472,819
Meta-analysisLarge GWAS
multi-ancestry

Research that mentions this SNP (1)

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

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]

View all GCA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…