chr8:127375606:T>C Detail (hg38) (POU5F1B)

Information

Genome

Assembly Position
hg19 chr8:128,387,852-128,387,852 View the variant detail on this assembly version.
hg38 chr8:127,375,606-127,375,606

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000645438.1:c.-560+36171T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.131
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 615739 OMIM
HGNC 9223 HGNC
Ensembl ENSG00000212993 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv34682365 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Malignant neoplasm of breast Furthermore, we showed that the SNPs rs1562430/8q24.21 and rs1314913/14q24.1 str... BeFree 26248686 Detail
0.080 breast carcinoma Furthermore, we showed that the SNPs rs1562430/8q24.21 and rs1314913/14q24.1 str... BeFree 26248686 Detail
<0.001 Malignant neoplasm of breast Genome-wide association studies have identified the SNP rs10505477 and SNP rs156... BeFree 25302443 Detail
<0.001 colorectal carcinoma Genome-wide association studies have identified the SNP rs10505477 and SNP rs156... BeFree 25302443 Detail
<0.001 breast carcinoma Genome-wide association studies have identified the SNP rs10505477 and SNP rs156... BeFree 25302443 Detail
<0.001 colorectal cancer Genome-wide association studies have identified the SNP rs10505477 and SNP rs156... BeFree 25302443 Detail
0.010 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.006 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.166 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.031 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.230 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.170 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.240 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.080 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
Annotation

Annotations

DescrptionSourceLinks
Furthermore, we showed that the SNPs rs1562430/8q24.21 and rs1314913/14q24.1 strongly influence BC r... DisGeNET Detail
Furthermore, we showed that the SNPs rs1562430/8q24.21 and rs1314913/14q24.1 strongly influence BC r... DisGeNET Detail
Genome-wide association studies have identified the SNP rs10505477 and SNP rs1562430 in CASC8 were a... DisGeNET Detail
Genome-wide association studies have identified the SNP rs10505477 and SNP rs1562430 in CASC8 were a... DisGeNET Detail
Genome-wide association studies have identified the SNP rs10505477 and SNP rs1562430 in CASC8 were a... DisGeNET Detail
Genome-wide association studies have identified the SNP rs10505477 and SNP rs1562430 in CASC8 were a... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1562430 dbSNP
Genome
hg38
Position
chr8:127,375,606-127,375,606
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1562430
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1308
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2193
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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