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rs2043211

From SNPedia

Orientationplus
Stabilizedplus
Make rs2043211(A;A)
Make rs2043211(A;T)
Make rs2043211(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position48234449
GeneCARD8
is asnp
is mentioned by
dbSNPrs2043211
ebirs2043211
HLIrs2043211
Exacrs2043211
Varsomers2043211
Maprs2043211
PheGenIrs2043211
hapmaprs2043211
1000 genomesrs2043211
hgdprs2043211
ensemblrs2043211
gopubmedrs2043211
geneviewrs2043211
scholarrs2043211
googlers2043211
pharmgkbrs2043211
gwascentralrs2043211
openSNPrs2043211
23andMers2043211
23andMe allrs2043211
SNP Nexus

SNPshotrs2043211
SNPdbers2043211
MSV3drs2043211
GWAS Ctlgrs2043211
GMAF0.331
Max Magnitude
? (A;A) (A;T) (T;T) 28
OMIM609051
DescCASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8
Variant
Relatedalso


[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 19664744OA-icon.png] A genome-wide in vitro bacterial-infection screen reveals human variation in the host response associated with inflammatory disease.


[PMID 19843337OA-icon.png] 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.


GET Evidence
CARD8-C10X
aa_change Cys10Stop
aa_change_short C10X
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.288901
summary



[PMID 23088220OA-icon.png] 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 24142982OA-icon.png] 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 24385277OA-icon.png] 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 26462562OA-icon.png] Multiplicative interaction of functional inflammasome genetic variants in determining the risk of gout