rs1131262

▶

GWAS Catalog Trait Associations (1)

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

ferritin measurement

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)
Allele T
OR 0.03
p 7.0e-9
N 246,139
Meta-analysisLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
Testing reported associations of genetic risk factors for oral clefts in a large Irish study population
AssociationN=3,351Tonia C. Carter et al.(2010)· Birth Defects Research Part A: Clinical and Molecular Teratology

A large candidate gene study testing associations between nonsyndromic oral clefts and 12 genes (CLPTM1, CRISPLD2, FGFR2, GABRB3, GLI2, IRF6, PTCH1, RARA, RYK, SATB2, SUMO1, TGFA) in an Irish population of 509 cleft lip with or without palate (CLP) cases, 383 cleft palate only cases, and 902 controls. The study confirmed associations with PTCH1, SUMO1, and TGFA as contributing to nonsyndromic oral clefts, with PTCH1 P1315L showing significant association with CLP.

Traits studied:Cleft lip with or without cleft palate (CLP)Cleft palate only (CP)Nonsyndromic oral clefts
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.

Community Wiki

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

Comments

Sign in to join the discussion.

Loading comments…