chr2:201284866:G>C Detail (hg38) (CASP8)

Information

Genome

Assembly Position
hg19 chr2:202,149,589-202,149,589 View the variant detail on this assembly version.
hg38 chr2:201,284,866-201,284,866

HGVS

Type Transcript Protein
RefSeq NM_001228.4:c.904G>C NP_001219.2:p.Asp302His
NM_033356.3:c.808G>C NP_203520.1:p.Asp270His
NM_001080125.1:c.1030G>C NP_001073594.1:p.Asp344His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601763 OMIM
HGNC 1509 HGNC
Ensembl ENSG00000064012 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10142624 TogoVar
COSMIC COSM3757877 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2007-03-01 no assertion criteria provided Breast cancer, protection against germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts autoimmune lymphoproliferative syndrome type 2B germline Detail
Benign 2016-03-28 criteria provided, single submitter not specified germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
neuroblastoma B Prognostic Supports Poor Outcome Common Germline 3 25502557 Detail
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
0.049 Malignant neoplasm of breast Both approaches showed statistically significant decreased breast cancer risks f... BeFree 19367188 Detail
0.080 breast carcinoma The minor allele of CASP8 D302H was significantly associated with a reduced risk... BeFree 20978178 Detail
0.080 breast carcinoma CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and B... BeFree 19214744 Detail
<0.001 Disorder of Achilles tendon A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) ... BeFree 22588838 Detail
0.049 Malignant neoplasm of breast As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
0.009 breast carcinoma The minor allele of CASP8 D302H was significantly associated with a reduced risk... BeFree 20978178 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 CASP8 D302H was found to be only associated with breast cancer risk. BeFree 25553350 Detail
0.082 ovarian carcinoma Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.049 Malignant neoplasm of breast CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and B... BeFree 19214744 Detail
0.080 Central neuroblastoma A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse ... BeFree 25502557 Detail
0.049 Malignant neoplasm of breast The minor allele of CASP8 D302H was significantly associated with a reduced risk... BeFree 20978178 Detail
<0.001 Meningioma, benign, no ICD-O subtype CASP8 D302H and meningioma risk: an analysis of five case-control series. BeFree 18823701 Detail
0.480 Malignant neoplasm of breast CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and B... BeFree 19214744 Detail
0.049 Malignant neoplasm of breast CASP8 D302H was found to be only associated with breast cancer risk. BeFree 25553350 Detail
0.049 Malignant neoplasm of breast In multivariate analyses, we observed a significantly decreased risk of breast c... BeFree 17932347 Detail
0.360 Malignant neoplasm of breast The minor allele of CASP8 D302H was significantly associated with a reduced risk... BeFree 20978178 Detail
<0.001 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.017 breast carcinoma Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, ... BeFree 24528085 Detail
<0.001 ovarian carcinoma Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
<0.001 Disorder of Achilles tendon A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) ... BeFree 22588838 Detail
0.001 breast carcinoma Previous case-control studies have indicated that the polymorphisms CASP8 D302H ... BeFree 20978178 Detail
0.026 Malignant neoplasm of breast Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, ... BeFree 24528085 Detail
0.002 ovarian carcinoma In the present study we investigate the relevance of RAD51 -135C &gt; G, TP53 R7... BeFree 19214744 Detail
0.011 colorectal cancer CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal... BeFree 18362937 Detail
0.001 pancreatic carcinoma CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0... BeFree 19843670 Detail
<0.001 Tendinopathy A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) ... BeFree 22588838 Detail
0.006 Malignant neoplasm of ovary Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.011 Central neuroblastoma CASP8 SNP D302H (rs1045485) is associated with worse survival in MYCN-amplified ... BeFree 25502557 Detail
0.005 prostate carcinoma Association of CASP8 D302H polymorphism with reduced risk of aggressive prostate... BeFree 20033885 Detail
<0.001 Breast Cancer, Familial Association of the CASP10 V410I variant with reduced familial breast cancer risk... BeFree 16251207 Detail
0.006 Malignant neoplasm of ovary In the present study we investigate the relevance of RAD51 -135C &gt; G, TP53 R7... BeFree 19214744 Detail
0.049 Malignant neoplasm of breast The CASP8 polymorphism D302H has recently been shown to influence the risk of br... BeFree 18823701 Detail
0.009 breast carcinoma As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
<0.001 Carcinogenesis As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
0.009 breast carcinoma Recent work in breast carcinoma has implicated the histidine variant of CASP8 D3... BeFree 20033885 Detail
0.049 Malignant neoplasm of breast Recent work in breast carcinoma has implicated the histidine variant of CASP8 D3... BeFree 20033885 Detail
0.009 breast carcinoma Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developin... BeFree 18362937 Detail
0.002 ovarian carcinoma Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.132 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.001 Malignant neoplasm of pancreas CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0... BeFree 19843670 Detail
0.280 Malignant neoplasm of ovary Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.010 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.006 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.001 pancreatic carcinoma CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0... BeFree 19843670 Detail
0.280 Malignant neoplasm of ovary Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.005 colorectal carcinoma CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal... BeFree 18362937 Detail
0.009 Glioma The common D302H variant of CASP8 is associated with risk of glioma. BeFree 18398042 Detail
0.082 ovarian carcinoma The p.Asp302His CASP8 variant was associated with reduced ovarian cancer risk in... BeFree 20502973 Detail
0.006 meningioma CASP8 D302H and meningioma risk: an analysis of five case-control series. BeFree 18823701 Detail
0.001 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.009 breast carcinoma The CASP8 polymorphism D302H has recently been shown to influence the risk of br... BeFree 18823701 Detail
0.280 Malignant neoplasm of ovary The p.Asp302His CASP8 variant was associated with reduced ovarian cancer risk in... BeFree 20502973 Detail
0.360 Malignant neoplasm of breast CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and B... BeFree 19214744 Detail
0.003 Malignant neoplasm of ovary Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
0.003 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.080 breast carcinoma CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and B... BeFree 19214744 Detail
0.001 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.006 Malignant neoplasm of breast Previous case-control studies have indicated that the polymorphisms CASP8 D302H ... BeFree 20978178 Detail
0.080 ovarian carcinoma Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian... BeFree 20978178 Detail
<0.001 Cancer of Head and Neck A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) vari... BeFree 20086182 Detail
<0.001 Brain Tumor, Primary The association of CASP8 D302H with glioma risk indicates the importance of inhe... BeFree 18398042 Detail
<0.001 Tendinopathy A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) ... BeFree 22588838 Detail
0.005 prostate carcinoma Impact of caspase-8 (CASP8) -652 6N del and D302H polymorphisms on prostate canc... BeFree 25292051 Detail
0.005 Malignant neoplasm of prostate Impact of caspase-8 (CASP8) -652 6N del and D302H polymorphisms on prostate canc... BeFree 25292051 Detail
0.003 Carcinogenesis As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
<0.001 Multiple tumors Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developin... BeFree 18362937 Detail
0.003 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
<0.001 Tendinopathy A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) ... BeFree 22588838 Detail
0.080 breast carcinoma The minor allele of CASP8 D302H was significantly associated with a reduced risk... BeFree 20978178 Detail
0.009 breast carcinoma Both approaches showed statistically significant decreased breast cancer risks f... BeFree 19367188 Detail
0.005 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.009 breast carcinoma CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and B... BeFree 19214744 Detail
0.124 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.017 neuroblastoma CASP8 SNP D302H (rs1045485) is associated with worse survival in MYCN-amplified ... BeFree 25502557 Detail
0.480 Malignant neoplasm of breast The minor allele of CASP8 D302H was significantly associated with a reduced risk... BeFree 20978178 Detail
<0.001 Breast Cancer, Familial Association of the CASP10 V410I variant with reduced familial breast cancer risk... BeFree 16251207 Detail
0.334 neuroblastoma A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse ... BeFree 25502557 Detail
0.001 Malignant neoplasm of pancreas CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0... BeFree 19843670 Detail
0.006 Malignant neoplasm of breast As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
0.123 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.001 breast carcinoma As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mu... BeFree 16251207 Detail
0.009 breast carcinoma In multivariate analyses, we observed a significantly decreased risk of breast c... BeFree 17932347 Detail
Annotation

Annotations

DescrptionSourceLinks
21 SNPs were analyzed using qRT-PCR genotyping assays in 500 Neuroblastoma tumor samples, and the CA... CIViC Evidence Detail
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) AND Breast cancer, protection against ClinVar Detail
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) AND Autoimmune lymphoproliferative syndrome type 2B ClinVar Detail
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) AND not specified ClinVar Detail
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) AND not provided ClinVar Detail
Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developing cancer, specifical... DisGeNET Detail
Both approaches showed statistically significant decreased breast cancer risks for CASP8 D302H. DisGeNET Detail
The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (p... DisGeNET Detail
CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. DisGeNET Detail
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (A... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (p... DisGeNET Detail
This study indicates the independent association of CASP8_rs1045485 and CASP8_rs3834129 as well as t... DisGeNET Detail
CASP8 D302H was found to be only associated with breast cancer risk. DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. DisGeNET Detail
A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-fr... DisGeNET Detail
The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (p... DisGeNET Detail
CASP8 D302H and meningioma risk: an analysis of five case-control series. DisGeNET Detail
CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. DisGeNET Detail
CASP8 D302H was found to be only associated with breast cancer risk. DisGeNET Detail
In multivariate analyses, we observed a significantly decreased risk of breast cancer associated wit... DisGeNET Detail
The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (p... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (A... DisGeNET Detail
Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are... DisGeNET Detail
Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577... DisGeNET Detail
In the present study we investigate the relevance of RAD51 -135C &gt; G, TP53 R72P, NQO1*2 and CASP8... DisGeNET Detail
CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the Unite... DisGeNET Detail
CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0.9; P = 0.005] and M... DisGeNET Detail
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (A... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
CASP8 SNP D302H (rs1045485) is associated with worse survival in MYCN-amplified neuroblastoma patien... DisGeNET Detail
Association of CASP8 D302H polymorphism with reduced risk of aggressive prostate carcinoma. DisGeNET Detail
Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction wit... DisGeNET Detail
In the present study we investigate the relevance of RAD51 -135C &gt; G, TP53 R72P, NQO1*2 and CASP8... DisGeNET Detail
The CASP8 polymorphism D302H has recently been shown to influence the risk of breast cancer. DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
Recent work in breast carcinoma has implicated the histidine variant of CASP8 D302H (rs1045485) as a... DisGeNET Detail
Recent work in breast carcinoma has implicated the histidine variant of CASP8 D302H (rs1045485) as a... DisGeNET Detail
Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developing cancer, specifical... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0.9; P = 0.005] and M... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0.9; P = 0.005] and M... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the Unite... DisGeNET Detail
The common D302H variant of CASP8 is associated with risk of glioma. DisGeNET Detail
The p.Asp302His CASP8 variant was associated with reduced ovarian cancer risk in the familial BRCA1/... DisGeNET Detail
CASP8 D302H and meningioma risk: an analysis of five case-control series. DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
The CASP8 polymorphism D302H has recently been shown to influence the risk of breast cancer. DisGeNET Detail
The p.Asp302His CASP8 variant was associated with reduced ovarian cancer risk in the familial BRCA1/... DisGeNET Detail
CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are... DisGeNET Detail
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA... DisGeNET Detail
A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding reg... DisGeNET Detail
The association of CASP8 D302H with glioma risk indicates the importance of inherited variation in t... DisGeNET Detail
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (A... DisGeNET Detail
Impact of caspase-8 (CASP8) -652 6N del and D302H polymorphisms on prostate cancer in different ethn... DisGeNET Detail
Impact of caspase-8 (CASP8) -652 6N del and D302H polymorphisms on prostate cancer in different ethn... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developing cancer, specifical... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (A... DisGeNET Detail
The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (p... DisGeNET Detail
Both approaches showed statistically significant decreased breast cancer risks for CASP8 D302H. DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
CASP8 SNP D302H (rs1045485) is associated with worse survival in MYCN-amplified neuroblastoma patien... DisGeNET Detail
The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (p... DisGeNET Detail
Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction wit... DisGeNET Detail
A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-fr... DisGeNET Detail
CASP8 rs1045485 [odds ratio (OR), 0.78; 95% confidence interval (95% CI), 0.65-0.9; P = 0.005] and M... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both ... DisGeNET Detail
In multivariate analyses, we observed a significantly decreased risk of breast cancer associated wit... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1045485 dbSNP
Genome
hg38
Position
chr2:201,284,866-201,284,866
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
154.64
Standard deviation of sample read depth (HGVD)
72.40
Number of reference allele (HGVD)
2417
Number of alternative allele (HGVD)
3
Allele Frequency (HGVD)
0.0012396694214876034
Gene Symbol (HGVD)
CASP8
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.4666050381326557E-4
Chromosome Counts in All Race (ExAC)
121386
Allele Counts in All Race (ExAC)
11008
Heterozygous Counts in All Race (ExAC)
9722
Homozygous Counts in All Race (ExAC)
643
Allele Frequency in All Race (ExAC)
0.09068591106058359
Variant (CIViC) (CIViC Variant)
D302H
Transcript 1 (CIViC Variant)
ENST00000264275.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/650
Genome browser