chr5:1315545:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr5:1,315,660-1,315,660 View the variant detail on this assembly version.
hg38 chr5:1,315,545-1,315,545

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.865
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 Smoker's lung To examine if variation at any of these loci influences the risk of lung cancer ... BeFree 19955392 Detail
0.131 Pancreatic Neoplasm NA GAD Detail
0.157 Lung Neoplasms [Deciphering the impact of common genetic variation on lung cancer risk: a genom... GAD 19654303 Detail
0.143 Malignant neoplasm of lung [Deciphering the impact of common genetic variation on lung cancer risk: a genom... GAD 19654303 Detail
<0.001 Lymphoma, Non-Hodgkin In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
0.003 Lymphoma, Non-Hodgkin In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Non-Hodgkin In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Large-Cell, Follicular In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Large-Cell, Follicular In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Large-Cell, Follicular In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Non-Hodgkin In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Large-Cell, Follicular In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Large-Cell, Follicular In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
<0.001 Lymphoma, Non-Hodgkin In the pleiotropy analysis, six risk variants for other cancers were associated ... BeFree 24598796 Detail
Annotation

Annotations

DescrptionSourceLinks
To examine if variation at any of these loci influences the risk of lung cancer in never-smokers, we... DisGeNET Detail
NA DisGeNET Detail
[Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association s... DisGeNET Detail
[Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association s... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... DisGeNET Detail
Gene
-
dbSNP
rs4975616 dbSNP
Genome
hg38
Position
chr5:1,315,545-1,315,545
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))
rs4975616
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8649
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14495
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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