chr5:44982215:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr5:44,982,317-44,982,317 View the variant detail on this assembly version.
hg38 chr5:44,982,215-44,982,215

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.456
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 In exploratory analyses, we found that the radiation-associated breast cancer ri... BeFree 20095854 Detail
0.004 Malignant neoplasm of breast In exploratory analyses, we found that the radiation-associated breast cancer ri... BeFree 20095854 Detail
Annotation

Annotations

DescrptionSourceLinks
In exploratory analyses, we found that the radiation-associated breast cancer risk varied significan... DisGeNET Detail
In exploratory analyses, we found that the radiation-associated breast cancer risk varied significan... DisGeNET Detail
Gene
-
dbSNP
rs2067980 dbSNP
Genome
hg38
Position
chr5:44,982,215-44,982,215
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))
rs2067980
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4555
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7634
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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