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rs104895476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895476(C;G)
Make rs104895476(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position50711057
GeneNOD2
is asnp
is mentioned by
dbSNPrs104895476
ebirs104895476
HLIrs104895476
Exacrs104895476
Varsomers104895476
Maprs104895476
PheGenIrs104895476
hapmaprs104895476
1000 genomesrs104895476
hgdprs104895476
ensemblrs104895476
gopubmedrs104895476
geneviewrs104895476
scholarrs104895476
googlers104895476
pharmgkbrs104895476
gwascentralrs104895476
openSNPrs104895476
23andMers104895476
23andMe allrs104895476
SNP Nexus

SNPshotrs104895476
SNPdbers104895476
MSV3drs104895476
GWAS Ctlgrs104895476
Max Magnitude0
OMIM605956
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104895476(G,T;G,T)
Alt rs104895476(G,T;G,T)
Reference rs104895476(C;C)
Significance Pathogenic
Disease Sarcoidosis
Variation info
Gene NOD2
CLNDBN Sarcoidosis, early-onset
Reversed 0
HGVS NC_000016.9:g.50744968C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004964.4,


[PMID 15459013] Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.