chr8:9547861:G>A Detail (hg19) (TNKS)

Information

Genome

Assembly Position
hg19 chr8:9,547,861-9,547,861
hg38 chr8:9,690,351-9,690,351 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003747.2:c.1107+9551G>A
Ensemble ENST00000310430.11:c.1107+9551G>A
ENST00000517770.2:c.1107+9551G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.499
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 603303 OMIM
HGNC 11941 HGNC
Ensembl ENSG00000173273 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32055741 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 breast carcinoma Several TL-related single nucleotide polymorphisms had modest association with b... BeFree 23629941 Detail
<0.001 breast carcinoma Several TL-related single nucleotide polymorphisms had modest association with b... BeFree 23629941 Detail
0.005 Malignant neoplasm of breast Several TL-related single nucleotide polymorphisms had modest association with b... BeFree 23629941 Detail
0.007 Malignant neoplasm of breast Several TL-related single nucleotide polymorphisms had modest association with b... BeFree 23629941 Detail
0.008 Malignant neoplasm of breast Several TL-related single nucleotide polymorphisms had modest association with b... BeFree 23629941 Detail
0.138 Malignant neoplasm of breast Several TL-related single nucleotide polymorphisms had modest association with b... BeFree 23629941 Detail
0.009 breast carcinoma Several TL-related single nucleotide polymorphisms had modest association with b... BeFree 23629941 Detail
<0.001 breast carcinoma Several TL-related single nucleotide polymorphisms had modest association with b... BeFree 23629941 Detail
Annotation

Annotations

DescrptionSourceLinks
Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... DisGeNET Detail
Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... DisGeNET Detail
Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... DisGeNET Detail
Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... DisGeNET Detail
Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... DisGeNET Detail
Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... DisGeNET Detail
Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... DisGeNET Detail
Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6990300 dbSNP
Genome
hg19
Position
chr8:9,547,861-9,547,861
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs6990300
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4992
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8367
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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