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rs3135499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs3135499(A;C)
Make rs3135499(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position50732216
GeneNOD2
is asnp
is mentioned by
dbSNPrs3135499
dbSNP (classic)rs3135499
ClinGenrs3135499
ebirs3135499
HLIrs3135499
Exacrs3135499
Gnomadrs3135499
Varsomers3135499
LitVarrs3135499
Maprs3135499
PheGenIrs3135499
Biobankrs3135499
1000 genomesrs3135499
hgdprs3135499
ensemblrs3135499
geneviewrs3135499
scholarrs3135499
googlers3135499
pharmgkbrs3135499
gwascentralrs3135499
openSNPrs3135499
23andMers3135499
SNPshotrs3135499
SNPdbers3135499
MSV3drs3135499
GWAS Ctlgrs3135499
GMAF0.3857
Max Magnitude0
? (A;A) (A;C) (C;C) 28


[PMID 20595247] Polymorphisms of innate pattern recognition receptors, response to interferon-beta and development of neutralizing antibodies in multiple sclerosis patients


[PMID 22212192] Polymorphisms of NOD2 and the risk of tuberculosis: a validation study in the Chinese population

[PMID 16600026OA-icon.png] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.


[PMID 23100559OA-icon.png] Association of a NOD2 gene polymorphism and Th17 lymphocytes with presumed ocular toxoplasmosis


ClinVar
Risk rs3135499(C;C)
Alt rs3135499(C;C)
Reference Rs3135499(A;A)
Significance Non-pathogenic
Disease Blau syndrome Crohn disease
Variation info
Gene NOD2
CLNDBN Blau syndrome Crohn disease
Reversed 0
HGVS NC_000016.9:g.50766127A>C
CLNSRC
CLNACC RCV000259622.1, RCV000333370.1,



[PMID 30950247OA-icon.png] The association of nucleotide-binding oligomerization domain 2 gene polymorphisms with the risk of asthma in the Chinese Han population.