rs2067085

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs2067085(C;G)

Make rs2067085(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

50699948

Gene

NOD2

is a	snp
is	mentioned by
dbSNP	rs2067085
dbSNP (classic)	rs2067085
ClinGen	rs2067085
ebi	rs2067085
HLI	rs2067085
Exac	rs2067085
Gnomad	rs2067085
Varsome	rs2067085
LitVar	rs2067085
Map	rs2067085
PheGenI	rs2067085
Biobank	rs2067085
1000 genomes	rs2067085
hgdp	rs2067085
ensembl	rs2067085
geneview	rs2067085
scholar	rs2067085
google	rs2067085
pharmgkb	rs2067085
gwascentral	rs2067085
openSNP	rs2067085
23andMe	rs2067085
SNPshot	rs2067085
SNPdbe	rs2067085
MSV3d	rs2067085
GWAS Ctlg	rs2067085

GMAF

0.2645

Max Magnitude

0

?

(C;C) (C;G) (G;G)

28

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

[PMID 12577202 ] 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 21304977 ] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

[PMID 22563200 ] 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,