chr8:128424792:A>G Detail (hg19) (POU5F1B)

Information

Genome

Assembly Position
hg19 chr8:128,424,792-128,424,792
hg38 chr8:127,412,547-127,412,547 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001159542.1:c.-559-2341A>G
Ensemble ENST00000465342.4:c.-559-2341A>G
ENST00000645438.1:c.-559-2341A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.774
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 tgv34683168 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
0.022 Malignant neoplasm of breast Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in P... BeFree 24338422 Detail
0.008 breast carcinoma Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in P... BeFree 24338422 Detail
0.127 Malignant neoplasm of breast Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN... BeFree 24338422 Detail
0.001 breast carcinoma Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN... BeFree 24338422 Detail
0.004 breast carcinoma Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN... BeFree 24338422 Detail
0.001 Malignant neoplasm of breast Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN... BeFree 24338422 Detail
Annotation

Annotations

DescrptionSourceLinks
Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in... DisGeNET Detail
Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in... DisGeNET Detail
Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN13, and rs7003146 in... DisGeNET Detail
Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN13, and rs7003146 in... DisGeNET Detail
Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN13, and rs7003146 in... DisGeNET Detail
Our results confirmed the association of rs7014346 in POU5F1P1, rs989902 in PTPN13, and rs7003146 in... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7014346 dbSNP
Genome
hg19
Position
chr8:128,424,792-128,424,792
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))
rs7014346
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.774
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12973
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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