rs11914

This is a synonymous variant in the IFNGR1 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign★★★☆
6 submitters3 publications

Disseminated atypical mycobacterial infection; Immunodeficiency 27A (IMD27A); not specified

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Research that mentions this SNP (1)

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Single nucleotide polymorphisms of 8 inflammation‐related genes and their associations with smoking‐related cancers
AssociationN=3,715Sam S. Oh et al.(2010)· International Journal of Cancer

This case-control study evaluated 12 SNPs in 8 inflammation-related genes across three studies (Los Angeles, Taixing China, and Memorial Sloan-Kettering) involving 2,049 smoking-related cancer cases and 1,666 controls. IL10 rs1800871 was inversely associated with oropharyngeal cancer (aOR: 0.69, 95% CI: 0.50-0.95) and positively associated with lung cancer among never smokers (aOR: 2.5, 95% CI: 1.3-5.1). TNF rs1799964 was inversely associated with smoking-related cancer in pooled never smokers (aOR: 0.36, 95% CI: 0.17-0.77). After Bayesian correction for multiple comparisons, IL10 rs1800871 and TNF rs1799964 emerged as noteworthy susceptibility markers for smoking-related cancers.

Traits studied:Bladder cancerEsophageal cancerKidney cancerLaryngeal cancerLiver cancerLung cancerOropharyngeal cancerSmoking-related cancersStomach cancer
PubMedDOIMetascience Observatory

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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