rs3135499
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs3135499(A;C) |
Make rs3135499(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 50732216 |
Gene | NOD2 |
is a | snp |
is | mentioned by |
dbSNP | rs3135499 |
dbSNP (classic) | rs3135499 |
ClinGen | rs3135499 |
ebi | rs3135499 |
HLI | rs3135499 |
Exac | rs3135499 |
Gnomad | rs3135499 |
Varsome | rs3135499 |
LitVar | rs3135499 |
Map | rs3135499 |
PheGenI | rs3135499 |
Biobank | rs3135499 |
1000 genomes | rs3135499 |
hgdp | rs3135499 |
ensembl | rs3135499 |
geneview | rs3135499 |
scholar | rs3135499 |
rs3135499 | |
pharmgkb | rs3135499 |
gwascentral | rs3135499 |
openSNP | rs3135499 |
23andMe | rs3135499 |
SNPshot | rs3135499 |
SNPdbe | rs3135499 |
MSV3d | rs3135499 |
GWAS Ctlg | rs3135499 |
GMAF | 0.3857 |
Max Magnitude | 0 |
? | (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 16600026] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
[PMID 23100559] 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 30950247] The association of nucleotide-binding oligomerization domain 2 gene polymorphisms with the risk of asthma in the Chinese Han population.