rs6591561

This variant is located in the MS4A4A gene.

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GWAS Catalog Trait Associations (3)

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

protein measurement

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

Allele A

OR 0.27

p 5.0e-92

N 10,708

Large GWAS

European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele G

OR 0.35

p 1.0e-69

N 5,367

Large GWAS

European

soluble triggering receptor expressed on myeloid cells 2 measurement

Deming Y et al. “The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.” Science Translational Medicine 11(505) (2019)

Allele G

OR 6.73

p 2.0e-11

N 813

Small GWAS

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About MS4A4A

This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]