rs1200426

GWAS Catalog Trait Associations (2)

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

body height

Allele T
OR 0.01
p 4.0e-42
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

level of lymphocyte antigen 96 in blood

Allele T
OR 0.04
p 4.0e-13
N 47,745
Large GWAS
European

Research that mentions this SNP (1)

Evidence of gene‐environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate
AssociationN=978Wu T. et al.(2012)· Birth Defects Research Part A: Clinical and Molecular Teratology

This study examined associations between 49 SNPs in the RUNX2 gene and nonsyndromic cleft lip with/without cleft palate (CL/P) in 326 Chinese case-parent trios. Five SNPs (rs16873396, rs10948234, rs16873401, rs545289, rs1200425) showed significant association with CL/P (nominal p<0.05, with rs545289 remaining significant after permutation testing at empiric p=0.035). The study found compelling evidence for gene-environment interaction between RUNX2 markers and environmental tobacco smoke (ETS), with eight SNPs showing significant interaction effects. These findings were partially replicated in independent European samples, particularly for rs6904353 and rs7748231.

Traits studied:Cleft lip with/without cleft palate (CL/P)Nonsyndromic cleft lip with/without cleft palate

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

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…