Rs104895462

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895462(C;T)
Make rs104895462(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position50710911
GeneNOD2
is asnp
is mentioned by
dbSNPrs104895462
Exacrs104895462
PheGenIrs104895462
nextbiors104895462
hapmaprs104895462
1000 genomesrs104895462
hgdprs104895462
ensemblrs104895462
gopubmedrs104895462
geneviewrs104895462
scholarrs104895462
googlers104895462
pharmgkbrs104895462
gwascentralrs104895462
openSNPrs104895462
23andMers104895462
23andMe allrs104895462
SNP Nexus

SNPshotrs104895462
SNPdbers104895462
MSV3drs104895462
OMIM605956
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104895462(T;T)
Alt rs104895462(T;T)
Reference rs104895462(C;C)
Significance Pathogenic
Disease Blau syndrome Sarcoidosis
Variation info
Gene NOD2
CLNDBN Blau syndrome Sarcoidosis, early-onset
Reversed 0
HGVS NC_000016.9:g.50744822C>T
CLNSRC OMIM Allelic Variant Unité médicale des maladies autoinflammatoires
CLNACC RCV000004960.1, RCV000004961.1,


[PMID 11528384] CARD15 mutations in Blau syndrome.