rs2234711
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2234711(C;C) |
| Make rs2234711(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 6 |
| Position | 137219383 |
| Gene | IFNGR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2234711 |
| dbSNP (classic) | rs2234711 |
| ClinGen | rs2234711 |
| ebi | rs2234711 |
| HLI | rs2234711 |
| Exac | rs2234711 |
| Gnomad | rs2234711 |
| Varsome | rs2234711 |
| LitVar | rs2234711 |
| Map | rs2234711 |
| PheGenI | rs2234711 |
| Biobank | rs2234711 |
| 1000 genomes | rs2234711 |
| hgdp | rs2234711 |
| ensembl | rs2234711 |
| geneview | rs2234711 |
| scholar | rs2234711 |
| rs2234711 | |
| pharmgkb | rs2234711 |
| gwascentral | rs2234711 |
| openSNP | rs2234711 |
| 23andMe | rs2234711 |
| SNPshot | rs2234711 |
| SNPdbe | rs2234711 |
| MSV3d | rs2234711 |
| GWAS Ctlg | rs2234711 |
| GMAF | 0.4458 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19712753] IFNGR1 polymorphisms in Thai malaria patients
[PMID 20500698] Analysis of functional SNP in ifng/ifngr1 in Chinese Han population with tuberculosis
[PMID 17136124
] IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan.
[PMID 18842150] Concurrent genotyping of Helicobacter pylori virulence genes and human cytokine SNP sites using whole genome amplified DNA derived from minute amounts of gastric biopsy specimen DNA.
[PMID 20196868] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
[PMID 25127106] Polymorphisms in the TNFA and IL6 Genes Represent Risk Factors for Autoimmune Thyroid Disease
[PMID 25350395] Single Nucleotide Polymorphisms within Interferon Signaling Pathway Genes Are Associated with Colorectal Cancer Susceptibility and Survival
[PMID 26391153] Polymorphisms in host immune response associated genes and risk of nasopharyngeal carcinoma development in Portugal
| ClinVar | |
|---|---|
| Risk | rs2234711(C;C) |
| Alt | rs2234711(C;C) |
| Reference | Rs2234711(T;T) |
| Significance | Non-pathogenic |
| Disease | Familial Atypical Mycobacteriosis |
| Variation | info |
| Gene | IFNGR1 |
| CLNDBN | Familial Atypical Mycobacteriosis, Autosomal Recessive |
| Reversed | 1 |
| HGVS | NC_000006.11:g.137540520A>G |
| CLNSRC | |
| CLNACC | RCV000336756.1, |
[PMID 30100739] Polymorphism of IFN-γ +874T/A associated with production of IFN-γ affects human papillomavirus susceptibility in rural women from Luohe, Henan, China.
