rs2066843

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(T;T)	2	4.09x higher risk for Crohn's disease

Make rs2066843(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

50711288

Gene

NOD2

is a	snp
is	mentioned by
dbSNP	rs2066843
dbSNP (classic)	rs2066843
ClinGen	rs2066843
ebi	rs2066843
HLI	rs2066843
Exac	rs2066843
Gnomad	rs2066843
Varsome	rs2066843
LitVar	rs2066843
Map	rs2066843
PheGenI	rs2066843
Biobank	rs2066843
1000 genomes	rs2066843
hgdp	rs2066843
ensembl	rs2066843
geneview	rs2066843
scholar	rs2066843
google	rs2066843
pharmgkb	rs2066843
gwascentral	rs2066843
openSNP	rs2066843
23andMe	rs2066843
SNPshot	rs2066843
SNPdbe	rs2066843
MSV3d	rs2066843
GWAS Ctlg	rs2066843

GMAF

0.1295

Max Magnitude

2

?

(C;C) (C;T) (T;T)

28

Rs2066843
PubMed	[15571588?dopt=Abstract PMID 17068223, 15571588]
Affy Probeset	SNP_A-1908244
Affy Orientation	same
On GW 5.0	1
Alleles A/B	C/T
Ancestral	C
Population
Allele	T
Case Freq.	0.38
Control Freq.
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All	4.09
Disease	Crohn's disease (CD)

rs2066843 increases susceptibility to Crohn's disease 4.09 times for carriers of the T allele [PMID 17068223, PMID 15571588]

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

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

[PMID 18576390 ] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.

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

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

[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	rs2066843(A;A) Rs2066843(T;T)
Alt	rs2066843(A;A) Rs2066843(T;T)
Reference	Rs2066843(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.50745199C>T
CLNSRC
CLNACC	RCV000344864.1, RCV000383063.1, RCV000454945.1,