rs10494112

This is a downstream gene variant variant.

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GWAS Catalog Trait Associations (1)

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

osteitis deformans

Albagha OM et al. “Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.” Nature Genetics 43(7):685-9 (2011)
Allele G
OR 1.72
p 7.0e-35
N 3,440
Large GWAS
European
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Research that mentions this SNP (1)

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Identification of rare genetic variants in novel loci associated with Paget’s disease of bone
AssociationN=537Mariejka Beauregard et al.(2014)· Human Genetics

This association study identified 126 rare genetic variants in candidate genes within five novel Paget's disease of bone (PDB)-associated loci in a French-Canadian population (240 cases, 297 controls). The study replicated associations with common variants rs484959, rs499345, rs10494112 (1p13 locus) and rs5742915 (15q24 locus). Two rare variants showed marginal association with PDB: rs62620995 (p.Leu397Phe in TM7SF4, p=0.09, RR=2.06) and rs35500845 (c.372+259a>G in CTHRC1, p=0.046, RR=0.65).

Traits studied:Paget's disease of bone
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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