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rs5743277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5743277(C;T)
Make rs5743277(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position50712018
GeneNOD2
is asnp
is mentioned by
dbSNPrs5743277
dbSNP (classic)rs5743277
ClinGenrs5743277
ebirs5743277
HLIrs5743277
Exacrs5743277
Gnomadrs5743277
Varsomers5743277
LitVarrs5743277
Maprs5743277
PheGenIrs5743277
Biobankrs5743277
1000 genomesrs5743277
hgdprs5743277
ensemblrs5743277
geneviewrs5743277
scholarrs5743277
googlers5743277
pharmgkbrs5743277
gwascentralrs5743277
openSNPrs5743277
23andMers5743277
23andMe allrs5743277
SNPshotrs5743277
SNPdbers5743277
MSV3drs5743277
GWAS Ctlgrs5743277
Max Magnitude0
? (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 27802154OA-icon.png]

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,