rs2227955

This variant is located in the HSPA1L gene.

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GWAS Catalog Trait Associations (2)

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

neutrophil collagenase level

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)

Allele G

OR 1.02

p 4.0e-13

N 997

Small GWAS

multi-ancestry

gp41 C34 peptide, HIV measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)

Allele G

OR 0.85

p 4.0e-9

N 997

Small GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

3 submitters1 publication

not provided; HSPA1L-related disorder; Inflammatory bowel disease 1

View on ClinVar →

About HSPA1L

This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]