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rs3135500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3135500(A;A)
Make rs3135500(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position50732975
GeneNOD2
is asnp
is mentioned by
dbSNPrs3135500
dbSNP (old)rs3135500
ClinGenrs3135500
ebirs3135500
HLIrs3135500
Exacrs3135500
Gnomadrs3135500
Varsomers3135500
Maprs3135500
PheGenIrs3135500
Biobankrs3135500
1000 genomesrs3135500
hgdprs3135500
ensemblrs3135500
gopubmedrs3135500
geneviewrs3135500
scholarrs3135500
googlers3135500
pharmgkbrs3135500
gwascentralrs3135500
openSNPrs3135500
23andMers3135500
23andMe allrs3135500
SNP Nexus

SNPshotrs3135500
SNPdbers3135500
MSV3drs3135500
GWAS Ctlgrs3135500
GMAF0.3765
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 24297055OA-icon.png] NOD2 Expression is Regulated by microRNAs in Colonic Epithelial HCT116 Cells


[PMID 16008671] Association of CARD15 polymorphisms with atopy-related traits in a population-based cohort of Caucasian adults.


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


[PMID 18576390OA-icon.png] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.


[PMID 22139875] NOD2 sequencing in Iranian children with Crohn's disease.


[PMID 22563200OA-icon.png] Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population.


[PMID 22957492] Pathway analysis of a genome-wide association study of ileal Crohn's disease.


[PMID 27775822] Polymorphisms in the interleukin (IL)-1 gene cluster influence systemic inflammation in patients at risk for acute-on-chronic liver failure.


ClinVar
Risk rs3135500(A;A)
Alt rs3135500(A;A)
Reference Rs3135500(G;G)
Significance Non-pathogenic
Disease Blau syndrome Crohn disease
Variation info
Gene NOD2
CLNDBN Blau syndrome Crohn disease
Reversed 0
HGVS NC_000016.9:g.50766886G>A
CLNSRC
CLNACC RCV000272415.1, RCV000327435.1,