chr16:56644650:C>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr16:56,644,650-56,644,650
hg38 chr16:56,610,738-56,610,738 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.649
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 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
<0.001 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.011 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.001 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
<0.001 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.008 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
0.004 breast carcinoma Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
<0.001 Malignant neoplasm of breast Six polymorphisms evaluated in the combined set showed significantly modified br... BeFree 21792883 Detail
Annotation

Annotations

DescrptionSourceLinks
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Six polymorphisms evaluated in the combined set showed significantly modified breast cancer risk per... DisGeNET Detail
Gene
-
dbSNP
rs1580833 dbSNP
Genome
hg19
Position
chr16:56,644,650-56,644,650
Variant Type
snv
Reference Allele
C
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))
rs1580833
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6491
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10879
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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