Rs104895472

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104895472(A;T)
Make rs104895472(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position50711398
GeneNOD2
is asnp
is mentioned by
dbSNPrs104895472
Exacrs104895472
PheGenIrs104895472
nextbiors104895472
hapmaprs104895472
1000 genomesrs104895472
hgdprs104895472
ensemblrs104895472
gopubmedrs104895472
geneviewrs104895472
scholarrs104895472
googlers104895472
pharmgkbrs104895472
gwascentralrs104895472
openSNPrs104895472
23andMers104895472
23andMe allrs104895472
SNP Nexus

SNPshotrs104895472
SNPdbers104895472
MSV3drs104895472
OMIM605956
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104895472(T;T)
Alt rs104895472(T;T)
Reference rs104895472(A;A)
Significance Pathogenic
Disease Sarcoidosis
Variation info
Gene NOD2
CLNDBN Sarcoidosis, early-onset
Reversed 0
HGVS NC_000016.9:g.50745309A>T
CLNSRC OMIM Allelic Variant Unité médicale des maladies autoinflammatoires
CLNACC RCV000004963.1,


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