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rs104895477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895477(A;A)
Make rs104895477(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position50711058
GeneNOD2
is asnp
is mentioned by
dbSNPrs104895477
ebirs104895477
HLIrs104895477
Exacrs104895477
Varsomers104895477
Maprs104895477
PheGenIrs104895477
hapmaprs104895477
1000 genomesrs104895477
hgdprs104895477
ensemblrs104895477
gopubmedrs104895477
geneviewrs104895477
scholarrs104895477
googlers104895477
pharmgkbrs104895477
gwascentralrs104895477
openSNPrs104895477
23andMers104895477
23andMe allrs104895477
SNP Nexus

SNPshotrs104895477
SNPdbers104895477
MSV3drs104895477
GWAS Ctlgrs104895477
Max Magnitude0
OMIM605956
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104895477(A,T;A,T)
Alt rs104895477(A,T;A,T)
Reference rs104895477(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.50744969G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004966.3, RCV000084076.1,


[PMID 15812565] A new CARD15 mutation in Blau syndrome.