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rs2076756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G)  ?
(G;G) 1.7x increased risk for Crohn's disease
ReferenceGRCh38 38.1/141
Chromosome16
Position50722970
GeneNOD2
is asnp
is mentioned by
dbSNPrs2076756
ebirs2076756
HLIrs2076756
Exacrs2076756
Varsomers2076756
Maprs2076756
PheGenIrs2076756
hapmaprs2076756
1000 genomesrs2076756
hgdprs2076756
ensemblrs2076756
gopubmedrs2076756
geneviewrs2076756
scholarrs2076756
googlers2076756
pharmgkbrs2076756
gwascentralrs2076756
openSNPrs2076756
23andMers2076756
23andMe allrs2076756
SNP Nexus

SNPshotrs2076756
SNPdbers2076756
MSV3drs2076756
GWAS Ctlgrs2076756
GMAF0.1148
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs2076756 is a SNP of the NOD2 gene found in a genome-wide association study to be associated with Crohn's disease.

In several European populations, the minor NOD2 allele, rs2076756(G), is associated with increased risk for Crohn's disease. The odds ratio (pooled over several populations) is 1.71 (CI: 1.42-2.05, p=6x10-8).[PMID 17684544OA-icon.png]

Neighborrs2066845
Distance341
GWAS snp
PMID [PMID 17435756OA-icon.png]
Trait Crohn's disease
Title Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
Risk Allele
P-val 7.0000000000000005E-14
Odds Ratio NR NR
GWAS snp
PMID [PMID 17068223OA-icon.png]
Trait Inflammatory bowel disease
Title A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
Risk Allele
P-val 5.0000000000000003E-10
Odds Ratio NR NR


GWAS snp
PMID [PMID 21102463OA-icon.png]
Trait
Title Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
Risk Allele G
P-val 4E-69
Odds Ratio 1.5300 [1.46-1.60]


[PMID 21209938OA-icon.png] The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn's disease susceptibility gene variants

GWAS snp
PMID [PMID 22412388OA-icon.png]
Trait
Title A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
Risk Allele G
P-val 1E-37
Odds Ratio 1.6600 None

[PMID 16600026OA-icon.png] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

[PMID 18758464OA-icon.png] Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.

[PMID 19408013OA-icon.png] Strategies and issues in the detection of pathway enrichment in genome-wide association studies.

[PMID 19434077OA-icon.png] Detecting gene-gene interactions that underlie human diseases.

[PMID 21745515] Role of NOD1/CARD4 and NOD2/CARD15 gene polymorphisms in cancer etiology.


GET Evidence
rs2076756
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.148438
summary



GWAS snp
PMID [PMID 22936669]
Trait Crohn's disease
Title A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
Risk Allele G
P-val 3E-10
Odds Ratio 1.46 [NR]


[PMID 23725363] Predicting complicated Crohn's disease and surgery: phenotypes, genetics, serology and psychological characteristics of a population-based cohort.