chr16:69373083:A>G Detail (hg38) (TERF2)

Information

Genome

Assembly Position
hg19 chr16:69,406,986-69,406,986 View the variant detail on this assembly version.
hg38 chr16:69,373,083-69,373,083

HGVS

Type Transcript Protein
RefSeq NM_005652.4:c.607-728T>C
Ensemble ENST00000254942.8:c.607-728T>C
ENST00000567296.6:c.607-728T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.139
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 602027 OMIM
HGNC 11729 HGNC
Ensembl ENSG00000132604 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55944857 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
0.008 Malignant neoplasm of breast The strongest association with BC susceptibility was observed for rs3785074 (TER... BeFree 19766477 Detail
<0.001 breast carcinoma The strongest association with BC susceptibility was observed for rs3785074 (TER... BeFree 19766477 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
The strongest association with BC susceptibility was observed for rs3785074 (TERF2, OR 0.51, 95% CI ... DisGeNET Detail
The strongest association with BC susceptibility was observed for rs3785074 (TERF2, OR 0.51, 95% CI ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3785074 dbSNP
Genome
hg38
Position
chr16:69,373,083-69,373,083
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))
rs3785074
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1389
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2328
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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