rs2043211
Orientation | plus |
Stabilized | plus |
Make rs2043211(A;A) |
Make rs2043211(A;T) |
Make rs2043211(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 48234449 |
Gene | CARD8 |
is a | snp |
is | mentioned by |
dbSNP | rs2043211 |
dbSNP (classic) | rs2043211 |
ClinGen | rs2043211 |
ebi | rs2043211 |
HLI | rs2043211 |
Exac | rs2043211 |
Gnomad | rs2043211 |
Varsome | rs2043211 |
LitVar | rs2043211 |
Map | rs2043211 |
PheGenI | rs2043211 |
Biobank | rs2043211 |
1000 genomes | rs2043211 |
hgdp | rs2043211 |
ensembl | rs2043211 |
geneview | rs2043211 |
scholar | rs2043211 |
rs2043211 | |
pharmgkb | rs2043211 |
gwascentral | rs2043211 |
openSNP | rs2043211 |
23andMe | rs2043211 |
SNPshot | rs2043211 |
SNPdbe | rs2043211 |
MSV3d | rs2043211 |
GWAS Ctlg | rs2043211 |
GMAF | 0.331 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
[PMID 20182451] Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease
[PMID 21248762] Association of CARD8 with inflammatory bowel disease in Koreans
[PMID 21621776] Interaction of the inflammasome genes CARD8 and NLRP3 in abdominal aortic aneurysms
[PMID 18092344] No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: a study in 3 independent European cohorts.
[PMID 18212821] Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.
[PMID 18841008] Deficiency of CARD8 is associated with increased Alzheimer's disease risk in women.
[PMID 19664744] A genome-wide in vitro bacterial-infection screen reveals human variation in the host response associated with inflammatory disease.
[PMID 19843337] Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer.
[PMID 22128899] Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French and Tunisian populations.
[PMID 23088220] CARD8 rs2043211 (p.C10X) Polymorphism Is Not Associated with Disease Susceptibility or Cardiovascular Events in Spanish Rheumatoid Arthritis Patients
[PMID 23507658] Susceptibility to M tuberculosis infection in HIV-positive patients is associated with CARD8 genetic variant
[PMID 23547871] Genetic variants in CARD8 but not in NLRP3 are associated with ankylosing spondylitis
[PMID 24142982] Genes involved in innate immunity associated with asbestos-related fibrotic changes
[PMID 24295199] Association of NLRP3 and CARD8 genetic polymorphisms with juvenile idiopathic arthritis in a Taiwanese population
[PMID 24385277] Regulation of CARD8 Expression by ANRIL and Association of CARD8 Single Nucleotide Polymorphism rs2043211 (p.C10X) With Ischemic Stroke
[PMID 23171454] Genetic support for the role of the NLRP3 inflammasome in psoriasis susceptibility.
[PMID 23611467] CARD8 gene encoding a protein of innate immunity is expressed in human atherosclerosis and associated with markers of inflammation.
[PMID 25564880] Association between CARD8 rs2043211 Polymorphism and Inflammatory Bowel Disease: A Meta-Analysis
[PMID 25790751] CARD8 rs2043211 Polymorphism is Associated with Gout in a Chinese Male Population
[PMID 25921775] rs2043211 polymorphism in CARD8 is not associated with Tourette syndrome in a family-based association study in the Chinese Han population
[PMID 26462562] Multiplicative interaction of functional inflammasome genetic variants in determining the risk of gout
[PMID 29722077] ANRIL as a genetic marker for cardiovascular events in renal transplant patients-an observational follow-up cohort study.
[PMID 30728751] Inflammasome Genes' Polymorphisms in Egyptian Chronic Hepatitis C Patients: Influence on Vulnerability to Infection and Response to Treatment.
[PMID 32104685] A New Risk Polymorphism rs10403848 of CARD8 Significantly Associated with Psoriasis Vulgaris in Northeastern China.
[PMID 32613553] SNP rs2043211 (p.C10X) in CARD8 Is Associated with Large-Artery Atherosclerosis Stroke in a Chinese Population.
[PMID 32689633] Combined polymorphisms in genes encoding the inflammasome components NLRP3 and CARD8 confer risk of ischemic stroke in men.
[PMID 33067783] CARD8 polymorphism rs2043211 protects against noise-induced hearing loss by causing the dysfunction of CARD8 protein.