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rs2067085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2067085(C;G)
Make rs2067085(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position50699948
GeneNOD2
is asnp
is mentioned by
dbSNPrs2067085
dbSNP (classic)rs2067085
ClinGenrs2067085
ebirs2067085
HLIrs2067085
Exacrs2067085
Gnomadrs2067085
Varsomers2067085
LitVarrs2067085
Maprs2067085
PheGenIrs2067085
Biobankrs2067085
1000 genomesrs2067085
hgdprs2067085
ensemblrs2067085
geneviewrs2067085
scholarrs2067085
googlers2067085
pharmgkbrs2067085
gwascentralrs2067085
openSNPrs2067085
23andMers2067085
SNPshotrs2067085
SNPdbers2067085
MSV3drs2067085
GWAS Ctlgrs2067085
GMAF0.2645
Max Magnitude0
? (C;C) (C;G) (G;G) 28


[PMID 20698950OA-icon.png] NOD2-C2 - a novel NOD2 isoform activating NF-kappaB in a muramyl dipeptide-independent manner

[PMID 12577202OA-icon.png] A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews.

[PMID 17892524] Evidence of allelic heterogeneity for associations between the NOD2/CARD15 gene and ulcerative colitis among North Indians.

[PMID 21304977OA-icon.png] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

[PMID 22563200OA-icon.png] Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population.


[PMID 23085276] NOD2 gene mutations associate weakly with ulcerative colitis but not with Crohn's disease in Indian patients with inflammatory bowel disease.


ClinVar
Risk rs2067085(A;A) rs2067085(G;G)
Alt rs2067085(A;A) rs2067085(G;G)
Reference Rs2067085(C;C)
Significance Non-pathogenic
Disease Blau syndrome Crohn disease not specified
Variation info
Gene NOD2
CLNDBN Blau syndrome Crohn disease not specified
Reversed 0
HGVS NC_000016.9:g.50733859C>G
CLNSRC
CLNACC RCV000282231.1, RCV000337291.1, RCV000455397.1,