rs8176822

This is a intron variant variant in the PAWR gene.

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GWAS Catalog Trait Associations (3)

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

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele T
OR 0.16
p 3.0e-16
N 1,028,980
Large GWAS
multi-ancestry

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele T
OR 0.21
p 2.0e-15
N 1,028,980
Large GWAS
multi-ancestry

retinal vasculature measurement

Jiang X et al. “GWAS on retinal vasculometry phenotypes.” Plos Genetics 19(2):e1010583 (2023)
Allele C
OR 0.01
p 2.0e-10
N 52,798
Large GWAS
European

About PAWR

This gene encodes a tumor suppressor protein that selectively induces apoptosis in cancer cells through intracellular and extracellular mechanisms. The intracellular mechanism involves the inhibition of pro-survival pathways and the activation of Fas-mediated apoptosis, while the extracellular mechanism involves the binding of a secreted form of this protein to glucose regulated protein 78 (GRP78) on the cell surface, which leads to activation of the extrinsic apoptotic pathway. This gene is located on the unstable human chromosomal 12q21 region and is often deleted or mutated different tumors. The encoded protein also plays an important role in the progression of age-related diseases. [provided by RefSeq, Aug 2017]

View all PAWR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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