rs2305742

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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 C
OR 1.06
p 5.0e-28
N 461,106
Large GWAS
European, NR
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Research that mentions this SNP (1)

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IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database
ReviewEsther van de Vosse et al.(2013)· Human Mutation

This is a comprehensive mutation update and database description paper for the IL12RB1 gene, which encodes the IL-12 receptor β1 chain. The authors review 70 unique pathogenic mutations found in 198 individuals worldwide causing IL-12R β1 deficiency, an autosomal recessive disorder characterized by increased susceptibility to mycobacterial and salmonella infections. The paper also reports 115 variations of unknown significance and reviews associations of IL12RB1 polymorphisms (rs11575925, rs147215816, rs11575926, rs11575934, rs375947, rs401502, rs11575935) with tuberculosis and other diseases, though most reported associations have not been replicated in larger cohorts.

Traits studied:Atopic dermatitisChildhood asthmaIL-12R β1 deficiencyMalarial anaemiaMendelian Susceptibility to Mycobacterial Disease (MSMD)Mycobacterial infectionsNon-Hodgkin lymphomaSalmonella infectionsSevere Acute Respiratory Syndrome (SARS)Tuberculosis
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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