chr2:201232809:AGTAAG> Detail (hg38) (CASP8)

Information

Genome

Assembly Position
hg19 chr2:202,097,532-202,097,537 
hg38 chr2:201,232,809-201,232,814

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.162
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance protective
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2008-03-01 no assertion criteria provided Lung cancer, protection against germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.049 Malignant neoplasm of breast Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developin... BeFree 18362937 Detail
<0.001 Disorder of Achilles tendon This study indicates the independent association of CASP8_rs1045485 and CASP8_rs... BeFree 22588838 Detail
0.009 breast carcinoma Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developin... BeFree 18362937 Detail
<0.001 Multiple tumors Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developin... BeFree 18362937 Detail
<0.001 Carcinoma of lung However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... BeFree 23315881 Detail
0.008 Malignant neoplasm of lung However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... BeFree 23315881 Detail
0.014 Malignant neoplasm of lung However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... BeFree 23315881 Detail
0.002 Carcinoma of lung However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del all... BeFree 23315881 Detail
0.049 Malignant neoplasm of breast Bi-directional PCR allele-specific amplification (bi-PASA) for detection of casp... BeFree 22659694 Detail
0.009 breast carcinoma The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carrie... BeFree 20652397 Detail
0.080 breast carcinoma These results suggest that the minor allele del of rs3834129 is associated under... BeFree 20652397 Detail
0.005 colorectal carcinoma Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal ca... BeFree 24465592 Detail
0.480 Malignant neoplasm of breast These results suggest that the minor allele del of rs3834129 is associated under... BeFree 20652397 Detail
0.049 Malignant neoplasm of breast The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carrie... BeFree 20652397 Detail
0.080 breast carcinoma The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carrie... BeFree 20652397 Detail
0.360 Malignant neoplasm of breast The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carrie... BeFree 20652397 Detail
0.009 breast carcinoma Bi-directional PCR allele-specific amplification (bi-PASA) for detection of casp... BeFree 22659694 Detail
0.011 colorectal cancer Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal ca... BeFree 24465592 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
0.001 gallbladder carcinoma Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
<0.001 Malignant neoplasm of gallbladder Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&... BeFree 21283657 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001228.4(CASP8):c.-937_-932del AND Lung cancer, protection against ClinVar Detail
Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developing cancer, specifical... DisGeNET Detail
This study indicates the independent association of CASP8_rs1045485 and CASP8_rs3834129 as well as t... DisGeNET Detail
Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developing cancer, specifical... DisGeNET Detail
Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developing cancer, specifical... DisGeNET Detail
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... DisGeNET Detail
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... DisGeNET Detail
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... DisGeNET Detail
However, we found that homozygote (G/G) of rs2227310 in the CASP-7 gene, del allele, heterozygote (i... DisGeNET Detail
Bi-directional PCR allele-specific amplification (bi-PASA) for detection of caspase-8 -652 6N ins/de... DisGeNET Detail
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. DisGeNET Detail
These results suggest that the minor allele del of rs3834129 is associated under a dominant model wi... DisGeNET Detail
Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results f... DisGeNET Detail
These results suggest that the minor allele del of rs3834129 is associated under a dominant model wi... DisGeNET Detail
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. DisGeNET Detail
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. DisGeNET Detail
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. DisGeNET Detail
Bi-directional PCR allele-specific amplification (bi-PASA) for detection of caspase-8 -652 6N ins/de... DisGeNET Detail
Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results f... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Single locus analysis by logistic regression showed association of MSH2 IVS1+9G&gt;C (rs2303426), ER... DisGeNET Detail
Gene
-
dbSNP
rs3834129 dbSNP
Genome
hg38
Position
chr2:201,232,809-201,232,814
Variant Type
snv
Reference Allele
AGTAAG
Alternative Allele
-
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3834129
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1622
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2719
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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