rs2229531
This variant is located in the ACP5 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
tartrate-resistant acid phosphatase type 5 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 T
OR 0.36
p 2.0e-21
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
▶ClinVar annotation
Likely Benign★★★☆
9 submitters3 publicationsnot specified; Spondyloenchondrodysplasia with immune dysregulation; not provided
View on ClinVar →About ACP5
This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]
View all ACP5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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