rs2535319

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GWAS Catalog Trait Associations (1)

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

MHC class I polypeptide-related sequence A measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.21
p 1.0e-12
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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Research that mentions this SNP (1)

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Targeted resequencing of a locus for heparin-induced thrombocytopenia on chromosome 5 identified in a genome-wide association study
AssociationN=364Anika Witten et al.(2018)· Journal of Molecular Medicine

A genome-wide association study (GWAS) and targeted resequencing in 364 heparin-induced thrombocytopenia (HIT) cases and controls identified a significant locus on chromosome 5 near rs1433265 (P=2.7×10⁻⁸, OR=2.77). Fine mapping revealed a risk-conferring haplotype (P=4.9×10⁻⁶, OR=2.41), while rare variant analysis identified DDR1 and MCTP2 as candidate genes, and discovered missense variants in ADAMTS16 and ICE1 that may contribute to HIT susceptibility.

Traits studied:Heparin-induced thrombocytopenia (HIT)
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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