rs5743277

Orientation

plus

Stabilized

plus

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

Make rs5743277(C;T)

Make rs5743277(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

16

Position

50712018

Gene

NOD2

is a	snp
is	mentioned by
dbSNP	rs5743277
dbSNP (classic)	rs5743277
ClinGen	rs5743277
ebi	rs5743277
HLI	rs5743277
Exac	rs5743277
Gnomad	rs5743277
Varsome	rs5743277
LitVar	rs5743277
Map	rs5743277
PheGenI	rs5743277
Biobank	rs5743277
1000 genomes	rs5743277
hgdp	rs5743277
ensembl	rs5743277
geneview	rs5743277
scholar	rs5743277
google	rs5743277
pharmgkb	rs5743277
gwascentral	rs5743277
openSNP	rs5743277
23andMe	rs5743277
SNPshot	rs5743277
SNPdbe	rs5743277
MSV3d	rs5743277
GWAS Ctlg	rs5743277

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

NOD2 SNP, aka R703C

One of 11 SNPs used in a genetic risk score for inflammatory bowel disease [PMID 27802154]

ClinVar
Risk	rs5743277(G;G) rs5743277(T;T)
Alt	rs5743277(G;G) rs5743277(T;T)
Reference	Rs5743277(C;C)
Significance	Probable-non-pathogenic
Disease	not specified Crohn disease Blau syndrome not provided
Variation	info
Gene	NOD2
CLNDBN	not specified Crohn disease Blau syndrome not provided
Reversed	0
HGVS	NC_000016.9:g.50745929C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000178334.1, RCV000330236.1, RCV000368536.1, RCV000488013.1,