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rs10065172

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Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs10065172(C;T)
Make rs10065172(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position150848436
GeneIRGM
is asnp
is mentioned by
dbSNPrs10065172
ebirs10065172
HLIrs10065172
Exacrs10065172
Varsomers10065172
Maprs10065172
PheGenIrs10065172
hapmaprs10065172
1000 genomesrs10065172
hgdprs10065172
ensemblrs10065172
gopubmedrs10065172
geneviewrs10065172
scholarrs10065172
googlers10065172
pharmgkbrs10065172
gwascentralrs10065172
openSNPrs10065172
23andMers10065172
23andMe allrs10065172
SNP Nexus

SNPshotrs10065172
SNPdbers10065172
MSV3drs10065172
GWAS Ctlgrs10065172
GMAF0.2764
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM612278
DescINFLAMMATORY BOWEL DISEASE 19; IBD19
Variant
Relatedalso
OMIM608212
DescIMMUNITY-RELATED GTPase FAMILY, M; IRGM
Variant
Relatedalso
[PMID 21283700OA-icon.png] 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 19165925OA-icon.png] 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 19750224OA-icon.png] Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.


[PMID 20106866OA-icon.png] 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 24232856OA-icon.png] 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,