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rs104895431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895431(C;T)
Make rs104895431(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position50711203
GeneNOD2
is asnp
is mentioned by
dbSNPrs104895431
dbSNP (classic)rs104895431
ClinGenrs104895431
ebirs104895431
HLIrs104895431
Exacrs104895431
Gnomadrs104895431
Varsomers104895431
LitVarrs104895431
Maprs104895431
PheGenIrs104895431
Biobankrs104895431
1000 genomesrs104895431
hgdprs104895431
ensemblrs104895431
geneviewrs104895431
scholarrs104895431
googlers104895431
pharmgkbrs104895431
gwascentralrs104895431
openSNPrs104895431
23andMers104895431
SNPshotrs104895431
SNPdbers104895431
MSV3drs104895431
GWAS Ctlgrs104895431
Max Magnitude0

NOD2 SNP, aka S431L

One of 11 SNPs used in a genetic risk score for inflammatory bowel disease [PMID 27802154OA-icon.png]

ClinVar
Risk rs104895431(T;T)
Alt rs104895431(T;T)
Reference Rs104895431(C;C)
Significance Probable-non-pathogenic
Disease Sarcoidosis Crohn disease
Variation info
Gene NOD2
CLNDBN Sarcoidosis, early-onset Crohn disease
Reversed 0
HGVS NC_000016.9:g.50745114C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000084081.1, RCV000322747.1,