rs10065172
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs10065172(C;T) |
| Make rs10065172(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 150848436 |
| Gene | IRGM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10065172 |
| dbSNP (classic) | rs10065172 |
| ClinGen | rs10065172 |
| ebi | rs10065172 |
| HLI | rs10065172 |
| Exac | rs10065172 |
| Gnomad | rs10065172 |
| Varsome | rs10065172 |
| LitVar | rs10065172 |
| Map | rs10065172 |
| PheGenI | rs10065172 |
| Biobank | rs10065172 |
| 1000 genomes | rs10065172 |
| hgdp | rs10065172 |
| ensembl | rs10065172 |
| geneview | rs10065172 |
| scholar | rs10065172 |
| rs10065172 | |
| pharmgkb | rs10065172 |
| gwascentral | rs10065172 |
| openSNP | rs10065172 |
| 23andMe | rs10065172 |
| SNPshot | rs10065172 |
| SNPdbe | rs10065172 |
| MSV3d | rs10065172 |
| GWAS Ctlg | rs10065172 |
| GMAF | 0.2764 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21283700
] Polymorphic Allele of Human IRGM1 Is Associated with Susceptibility to Tuberculosis in African Americans
blog summary of [PMID 21278745] says
- The exonic SNP c.313C>T (rs10065172) is in perfect linkage disequilibrium (r2=1.0) with a deletion polymorphism of 20 kbp mapping upstream of the IRGM gene. This deletion has been strongly associated with Crohn's disease in several European populations or those with European ancestry.
[PMID 21508684] Risk predisposition for Crohn disease: A "ménage à trois" combining IRGM allele, miRNA and xenophagy
[PMID 18985712] Autophagy gene ATG16L1 but not IRGM is associated with Crohn's disease in Canadian children.
[PMID 19165925] Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.
[PMID 19683022] Lack of association of NKX2-3, IRGM, and ATG16L1 inflammatory bowel disease susceptibility variants with celiac disease.
[PMID 19750224] Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.
[PMID 20106866] Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.
[PMID 22508677] Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the korean population.
[PMID 24232856] Association between Variants of the Autophagy Related Gene - IRGM and Susceptibility to Crohn's Disease and Ulcerative Colitis: A Meta-Analysis
[PMID 24247223] Genetic association and functional role of Crohn disease risk alleles involved in microbial sensing, autophagy, and endoplasmic reticulum (ER) stress
[PMID 24859836] Functional IRGM polymorphism is associated with language impairment in glioma and upregulates cytokine expressions
| ClinVar | |
|---|---|
| Risk | rs10065172(T;T) |
| Alt | rs10065172(T;T) |
| Reference | Rs10065172(C;C) |
| Significance | Pathogenic |
| Disease | Inflammatory bowel disease 19 |
| Variation | info |
| Gene | IRGM |
| CLNDBN | Inflammatory bowel disease 19 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.150227998C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023694.2, |
[PMID 30335469] Crohn's disease IRGM risk alleles are associated with altered gene expression in human tissues.
