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rs1000113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 1.5x risk of Crohn's disease
(T;T) 1.9x risk of Crohn's disease
ReferenceGRCh38 38.1/141
Chromosome5
Position150860514
is asnp
is mentioned by
dbSNPrs1000113
ebirs1000113
HLIrs1000113
Exacrs1000113
Varsomers1000113
Maprs1000113
PheGenIrs1000113
hapmaprs1000113
1000 genomesrs1000113
hgdprs1000113
ensemblrs1000113
gopubmedrs1000113
geneviewrs1000113
scholarrs1000113
googlers1000113
pharmgkbrs1000113
gwascentralrs1000113
openSNPrs1000113
23andMers1000113
23andMe allrs1000113
SNP Nexus

SNPshotrs1000113
SNPdbers1000113
MSV3drs1000113
GWAS Ctlgrs1000113
GMAF0.2121
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs1000113 has been reported in a large study to be associated with Crohn's disease.

The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 1.54 (CI 1.31-1.82), and for homozygotes, 1.92 (CI 0.92-4.00). [PMID 17554300OA-icon.png]

Neighborrs4958847
Distance489
GWAS
SNP rs1000113
PubMedID [PMID 17554300OA-icon.png]
Condition Crohn's disease
Gene IRGM
Risk Allele T
pValue 3.00E-007
OR 1.54
95% CI 1.31-1.82



[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 19098858] Polymorphism of the IRGM gene might predispose to fistulizing behavior in Crohn's disease.


[PMID 20106866OA-icon.png] Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease.


GET Evidence
rs1000113
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.210938
summary