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rs5743289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
(T;T) 1 Risk for IBD
Make rs5743289(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position50722863
GeneNOD2
is asnp
is mentioned by
dbSNPrs5743289
ebirs5743289
HLIrs5743289
Exacrs5743289
Varsomers5743289
Maprs5743289
PheGenIrs5743289
hapmaprs5743289
1000 genomesrs5743289
hgdprs5743289
ensemblrs5743289
gopubmedrs5743289
geneviewrs5743289
scholarrs5743289
googlers5743289
pharmgkbrs5743289
gwascentralrs5743289
openSNPrs5743289
23andMers5743289
23andMe allrs5743289
SNP Nexus

SNPshotrs5743289
SNPdbers5743289
MSV3drs5743289
GWAS Ctlgrs5743289
GMAF0.07668
Max Magnitude1
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 18758464OA-icon.png]
Trait Inflammatory bowel disease
Title Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
Risk Allele T
P-val 4.0000000000000001E-10
Odds Ratio 1.46 [1.29-1.64]
GWAS snp
PMID [PMID 17804789OA-icon.png]
Trait Crohn's disease
Title Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci
Risk Allele
P-val 6.0000000000000001E-17
Odds Ratio NR NR
GWAS snp
PMID [PMID 17447842OA-icon.png]
Trait Crohn's disease
Title Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4
Risk Allele
P-val 9.9999999999999995E-7
Odds Ratio NR NR


[PMID 17068223OA-icon.png] A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.


[PMID 19843337OA-icon.png] Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.


[PMID 24394805] Genetic susceptibility and genotype–phenotype association in 588 Danish children with inflammatory bowel disease.


GET Evidence
rs5743289
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.09375
summary rs5743289 is a C/T variation in the NOD2 gene (intronic) on human chromosome 16, associated with Crohn's disease.



ClinVar
Risk rs5743289(G,T;G,T)
Alt rs5743289(G,T;G,T)
Reference rs5743289(C;C)
Significance Other
Disease INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE)
Variation info
Gene NOD2
CLNDBN INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO
Reversed 0
HGVS NC_000016.9:g.50756774C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004962.4,