rs751543

This is a intron variant variant in the PAPPA gene.

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GWAS Catalog Trait Associations (3)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.03
p 1.0e-300
N 4,080,687
Large GWAS
European
Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)
Allele C
OR —
β 0.026
p 7.0e-10
N 133,653
Large GWAS
European

forced expiratory volume

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele C
OR 0.01
p 7.0e-14
N 373,397
Large GWAS
European

birth weight

Plotnikov D et al. “Association between birth weight and refractive error in adulthood: a Mendelian randomisation study.” The British Journal of Ophthalmology 104(2):214-219 (2020)
Allele T
OR 0.02
p 3.0e-9
N 188,039
Large GWAS
European

About PAPPA

This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017]

View all PAPPA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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