rs2902345

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GWAS Catalog Trait Associations (1)

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

Back pain

Bjornsdottir G et al. “Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.” Nature Communications 13(1):634 (2022)
Allele T
OR 1.05
p 1.0e-17
N 981,812
Large GWAS
European
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Research that mentions this SNP (1)

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Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms
AssociationN=297Jae Woong Sull et al.(2009)· Human Genetics

This case-parent trio study of 297 CL/P (cleft lip with/without palate) cases from four populations examined associations between TGFA gene markers and cleft risk. Two SNPs showed significant evidence of excess maternal transmission (rs3821261: P=0.004, OR(imprinting)=4.17; rs3771475: P=0.027, OR(imprinting)=2.44), suggesting parent-of-origin effects. Additionally, several TGFA SNPs showed suggestive evidence of gene-environment interactions with maternal smoking, alcohol consumption, and vitamin supplementation, and possible gene-gene interaction with IRF6 variant rs2235373 (combined OR=5.66).

Traits studied:Cleft lip with or without cleft palate (CL/P)Non-syndromic isolated cleft lip/palate
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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