chr8:127395198:A>G Detail (hg38) (POU5F1B)

Information

Genome

Assembly Position
hg19 chr8:128,407,443-128,407,443 View the variant detail on this assembly version.
hg38 chr8:127,395,198-127,395,198

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000645438.1:c.-559-19690A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.674
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 tgv34682763 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
<0.001 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
0.002 colorectal carcinoma No single nucleotide polymorphism (SNP) achieved a genome-wide significant P val... BeFree 23677573 Detail
0.002 colorectal cancer No single nucleotide polymorphism (SNP) achieved a genome-wide significant P val... BeFree 23677573 Detail
<0.001 Malignant neoplasm of stomach Our preliminary study indicates for the first time that POU5F1P1 rs10505477 is c... BeFree 25046748 Detail
<0.001 stomach carcinoma Our preliminary study indicates for the first time that POU5F1P1 rs10505477 is c... BeFree 25046748 Detail
0.002 colorectal carcinoma No single nucleotide polymorphism (SNP) achieved a genome-wide significant P val... BeFree 23677573 Detail
<0.001 colorectal cancer Genome-wide association studies have identified the SNP rs10505477 and SNP rs156... BeFree 25302443 Detail
0.004 colorectal cancer No single nucleotide polymorphism (SNP) achieved a genome-wide significant P val... BeFree 23677573 Detail
Annotation

Annotations

DescrptionSourceLinks
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
No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the mos... DisGeNET Detail
No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the mos... DisGeNET Detail
Our preliminary study indicates for the first time that POU5F1P1 rs10505477 is correlated with survi... DisGeNET Detail
Our preliminary study indicates for the first time that POU5F1P1 rs10505477 is correlated with survi... DisGeNET Detail
No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the mos... DisGeNET Detail
Genome-wide association studies have identified the SNP rs10505477 and SNP rs1562430 in CASC8 were a... DisGeNET Detail
No single nucleotide polymorphism (SNP) achieved a genome-wide significant P value; however, the mos... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10505477 dbSNP
Genome
hg38
Position
chr8:127,395,198-127,395,198
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs10505477
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6745
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11305
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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