rs3135500
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs3135500(A;A) |
Make rs3135500(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 50732975 |
Gene | NOD2 |
is a | snp |
is | mentioned by |
dbSNP | rs3135500 |
dbSNP (classic) | rs3135500 |
ClinGen | rs3135500 |
ebi | rs3135500 |
HLI | rs3135500 |
Exac | rs3135500 |
Gnomad | rs3135500 |
Varsome | rs3135500 |
LitVar | rs3135500 |
Map | rs3135500 |
PheGenI | rs3135500 |
Biobank | rs3135500 |
1000 genomes | rs3135500 |
hgdp | rs3135500 |
ensembl | rs3135500 |
geneview | rs3135500 |
scholar | rs3135500 |
rs3135500 | |
pharmgkb | rs3135500 |
gwascentral | rs3135500 |
openSNP | rs3135500 |
23andMe | rs3135500 |
SNPshot | rs3135500 |
SNPdbe | rs3135500 |
MSV3d | rs3135500 |
GWAS Ctlg | rs3135500 |
GMAF | 0.3765 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 24297055] 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 16600026] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
[PMID 18576390] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
[PMID 22139875] NOD2 sequencing in Iranian children with Crohn's disease.
[PMID 22563200] 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, |