chr11:69513996:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr11:69,328,764-69,328,764 View the variant detail on this assembly version.
hg38 chr11:69,513,996-69,513,996

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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
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 Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.023 breast carcinoma Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.043 Malignant neoplasm of breast Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.121 Malignant neoplasm of breast Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.132 Malignant neoplasm of breast The association for rs614367 was specific to estrogen receptor (ER)-positive dis... BeFree 22461340 Detail
0.080 breast carcinoma The association for rs614367 was specific to estrogen receptor (ER)-positive dis... BeFree 22461340 Detail
0.240 Malignant neoplasm of breast The association for rs614367 was specific to estrogen receptor (ER)-positive dis... BeFree 22461340 Detail
0.080 breast carcinoma The association for rs614367 was specific to estrogen receptor (ER)-positive dis... BeFree 22461340 Detail
Annotation

Annotations

DescrptionSourceLinks
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest f... DisGeNET Detail
The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest f... DisGeNET Detail
The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest f... DisGeNET Detail
The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest f... DisGeNET Detail
Gene
-
dbSNP
rs614367 dbSNP
Genome
hg38
Position
chr11:69,513,996-69,513,996
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs614367
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0006
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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