rs7749390

This is a regulatory region variant variant in the IFNGR1 gene.

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GWAS Catalog Trait Associations (1)

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

Oral ulcer

Dudding T et al. “Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.” Nature Communications 10(1):1052 (2019)
Allele G
OR 1.08
p 2.0e-62
N 461,106
Large GWAS
European, NR
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ClinVar annotation

Benign★★★☆
6 submitters3 publications

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency; Disseminated atypical mycobacterial infection; Immunodeficiency 27A (IMD27A); not specified

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About IFNGR1

This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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