Rs104895461

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895461(A;A)
Make rs104895461(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position50710912
GeneNOD2
is asnp
is mentioned by
dbSNPrs104895461
Exacrs104895461
PheGenIrs104895461
nextbiors104895461
hapmaprs104895461
1000 genomesrs104895461
hgdprs104895461
ensemblrs104895461
gopubmedrs104895461
geneviewrs104895461
scholarrs104895461
googlers104895461
pharmgkbrs104895461
gwascentralrs104895461
openSNPrs104895461
23andMers104895461
23andMe allrs104895461
SNP Nexus

SNPshotrs104895461
SNPdbers104895461
MSV3drs104895461
Max Magnitude0
OMIM605956
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104895461(A;A)
Alt rs104895461(A;A)
Reference rs104895461(G;G)
Significance Pathogenic
Disease Blau syndrome Sarcoidosis
Variation info
Gene NOD2
CLNDBN Blau syndrome Sarcoidosis, early-onset
Reversed 0
HGVS NC_000016.9:g.50744823G>A
CLNSRC OMIM Allelic Variant Unité médicale des maladies autoinflammatoires
CLNACC RCV000004958.1, RCV000084070.1,


[PMID 11528384] CARD15 mutations in Blau syndrome.