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rs17221417

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal
(C;G) 1.5 1.3x higher risk for Crohn's disease
(G;G) 2 1.9x higher risk for Crohn's disease
ReferenceGRCh38 38.1/141
Chromosome16
Position50705671
GeneNOD2
is asnp
is mentioned by
dbSNPrs17221417
ebirs17221417
HLIrs17221417
Exacrs17221417
Varsomers17221417
Maprs17221417
PheGenIrs17221417
hapmaprs17221417
1000 genomesrs17221417
hgdprs17221417
ensemblrs17221417
gopubmedrs17221417
geneviewrs17221417
scholarrs17221417
googlers17221417
pharmgkbrs17221417
gwascentralrs17221417
openSNPrs17221417
23andMers17221417
23andMe allrs17221417
SNP Nexus

SNPshotrs17221417
SNPdbers17221417
MSV3drs17221417
GWAS Ctlgrs17221417
GMAF0.1451
Max Magnitude2
? (C;C) (C;G) (G;G) 28
rs17221417 has been reported in a large study to be associated with Crohn's disease.

The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with heterozygotes is 1.29 (CI 1.13-1.46), and for homozygotes, 1.92 (CI 1.58-2.34). [PMID 17554300OA-icon.png]

OMIM605956
DescNUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2
Variant
Relatedalso
[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

[PMID 18843111OA-icon.png] Individual disease risk and multimetric analysis of Crohn disease.

[PMID 18853133OA-icon.png] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.


GET Evidence
rs17221417
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.1875
summary