rs5743289
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common on affy axiom data |
(C;T) | 1 | Perhaps increased risk for certain autoinflammatory disorders |
(T;T) | 1 | Perhaps increased risk for certain autoinflammatory disorders |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 50722863 |
Gene | NOD2 |
is a | snp |
is | mentioned by |
dbSNP | rs5743289 |
dbSNP (classic) | rs5743289 |
ClinGen | rs5743289 |
ebi | rs5743289 |
HLI | rs5743289 |
Exac | rs5743289 |
Gnomad | rs5743289 |
Varsome | rs5743289 |
LitVar | rs5743289 |
Map | rs5743289 |
PheGenI | rs5743289 |
Biobank | rs5743289 |
1000 genomes | rs5743289 |
hgdp | rs5743289 |
ensembl | rs5743289 |
geneview | rs5743289 |
scholar | rs5743289 |
rs5743289 | |
pharmgkb | rs5743289 |
gwascentral | rs5743289 |
openSNP | rs5743289 |
23andMe | rs5743289 |
SNPshot | rs5743289 |
SNPdbe | rs5743289 |
MSV3d | rs5743289 |
GWAS Ctlg | rs5743289 |
GMAF | 0.07668 |
Max Magnitude | 1 |
aka c.2798+158C>T
This quite common variant has been linked to several autoinflammatory disorders, but it appears to be quite a complex interaction that is still not well understood (and only affects a small fraction of the people who carry it anyway). OMIM provides the best summary of the findings to date.
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 18758464] |
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 17804789] |
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 17447842] |
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 17068223] A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
[PMID 19843337] 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.
ClinVar | |
---|---|
Risk | rs5743289(G;G) Rs5743289(T;T) |
Alt | rs5743289(G;G) Rs5743289(T;T) |
Reference | Rs5743289(C;C) |
Significance | Other |
Disease | INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE) Blau syndrome YAO SYNDROME |
Variation | info |
Gene | NOD2 |
CLNDBN | INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO Blau syndrome YAO SYNDROME, SUSCEPTIBILITY TO |
Reversed | 0 |
HGVS | NC_000016.9:g.50756774C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004962.5, RCV000416486.1, RCV000416489.1, |