Have questions? Visit https://www.reddit.com/r/SNPedia

rs3834129

From SNPedia

Orientationminus
Stabilizedminus
Make rs3834129(-;-)
Make rs3834129(-;CTTACT)
Make rs3834129(CTTACT;CTTACT)
ReferenceGRCh38 38.1/141
Chromosome2
Position201232809
GeneCASP8
is asnp
is mentioned by
dbSNPrs3834129
ebirs3834129
HLIrs3834129
Exacrs3834129
Varsomers3834129
Maprs3834129
PheGenIrs3834129
hapmaprs3834129
1000 genomesrs3834129
hgdprs3834129
ensemblrs3834129
gopubmedrs3834129
geneviewrs3834129
scholarrs3834129
googlers3834129
pharmgkbrs3834129
gwascentralrs3834129
openSNPrs3834129
23andMers3834129
23andMe allrs3834129
SNP Nexus

SNPshotrs3834129
SNPdbers3834129
MSV3drs3834129
GWAS Ctlgrs3834129
GMAF0.3962
Max Magnitude
rs3834129 is a SNP in the CASP8 gene that is also known as the -652 6N ins/del promoter variant.

It has been linked to higher risk for multiple tumours including colorectal cancer (CRC) in Chinese populations; however, it showed no association with colorectal cancer risk in a study of 4,000 UK cases.[PMID 18362937OA-icon.png]


[PMID 19276244] A Six-Nucleotide Insertion-Deletion Polymorphism in the CASP8 Promoter Associated with Risk and Progression of Bladder Cancer

OMIM601763
DescCASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8
Variant
Relatedalso

This page demonstrates a bug in User:SNPediaBot. It incorrectly assigned the genotype, probably because it is multiple letters. This makes a good test case.


[PMID 20564345] Caspase-8 polymorphisms and risk of gallbladder cancer in a Northern Indian population

[PMID 20652397] The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers


[PMID 21283657OA-icon.png] Gallbladder Cancer Predisposition: A Multigenic Approach to DNA-Repair, Apoptotic and Inflammatory Pathway Genes

OMIM601763
Desc
Variant0004
Relatedalso


[PMID 21714991] Polymorphisms in the CASP8 gene and the risk of epithelial ovarian cancer


[PMID 21633787] Polymorphisms in the promoter region of the CASP8 gene are not associated with non-Hodgkin's lymphoma in Chinese patients


[PMID 22056502OA-icon.png] Fine-mapping CASP8 risk variants in breast cancer


[PMID 22323360OA-icon.png] Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: A meta-analysis of genome-wide association studies


[PMID 22568453] Association of CASP3 polymorphism with hematologic toxicity in advanced NSCLC patients treated with platinum-based chemotherapy


[PMID 22345985OA-icon.png] A six-nucleotide deletion polymorphism in the casp8 promoter is associated with reduced risk of esophageal and gastric cancers in Kashmir valley


[PMID 18563783OA-icon.png] Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma.


[PMID 19318553OA-icon.png] A breast cancer risk haplotype in the caspase-8 gene.


[PMID 19531679OA-icon.png] Polymorphisms and haplotypes in the caspase-3, caspase-7, and caspase-8 genes and risk for endometrial cancer: a population-based, case-control study in a Chinese population.


[PMID 19542541] Polymorphisms in cell death pathway genes are associated with altered sperm apoptosis and poor semen quality.


[PMID 19629679] Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis.


[PMID 22659694] Bi-directional PCR allele-specific amplification (bi-PASA) for detection of caspase-8 -652 6N ins/del promoter polymorphism (rs3834129) in breast cancer.


[PMID 23170140OA-icon.png] CASP-8 -652 6N ins/del polymorphism and cancer risk: A literature-based systematic HuGE review and meta-analysis