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Rs104895460

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Orientationplus
is asnp
is mentioned by
dbSNPrs104895460
PheGenIrs104895460
nextbiors104895460
hapmaprs104895460
1000 genomesrs104895460
hgdprs104895460
ensemblrs104895460
gopubmedrs104895460
geneviewrs104895460
scholarrs104895460
googlers104895460
pharmgkbrs104895460
gwascentralrs104895460
openSNPrs104895460
23andMers104895460
23andMe allrs104895460
SNP Nexus

SNPshotrs104895460
SNPdbers104895460
MSV3drs104895460
GeneNOD2
Chromosome16
Orientationplus
Position50711316
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895460(C;T)
Make rs104895460(T;T)
OMIM605956
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104895460(T;T)
Alt rs104895460(T;T)
Reference rs104895460(C;C)
Significance 5
Disease Blau syndrome, Sarcoidosis
ClinVar info
Gene NOD2
CLNDBN Blau syndrome, Sarcoidosis, early-onset
Reversed 0
CLNHGVS NC_000016.9:g.50745227C>T
CLNSRC OMIM Allelic Variant, Unité médicale des maladies autoinflammatoires
CLNACC RCV000004959.1, RCV000084086.1


[PMID 11528384] CARD15 mutations in Blau syndrome.