rs4418214

This is a intron variant variant.

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GWAS Catalog Trait Associations (4)

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

HIV-1 infection

Pereyra F et al. “The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.” Science (new York, N.y.) 330(6010):1551-7 (2010)
Allele C
OR 4.40
p 1.0e-34
N 3,622
Large GWAS
multi-ancestry
McLaren PJ et al. “Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls.” Plos Pathogens 9(7):e1003515 (2013)
Allele C
OR 1.52
p 4.0e-11
N 13,581
Large GWAS
European

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 0.87
p 2.0e-28
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele C
OR 0.71
p 2.0e-15
N 997
Small GWAS
multi-ancestry

platelet volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.04
p 7.0e-17
N 408,112
Large GWAS
European

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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