chr1:204559956:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:204,529,084-204,529,084 View the variant detail on this assembly version.
hg38 chr1:204,559,956-204,559,956

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.404
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
0.002 Lip and oral cavity carcinoma To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
<0.001 Malignant neoplasm of mouth To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
0.029 Malignant neoplasm of mouth To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
<0.001 Malignant neoplasm of mouth To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
<0.001 Lip and oral cavity carcinoma To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
0.001 Malignant neoplasm of mouth To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
0.020 Lip and oral cavity carcinoma To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
0.001 Lip and oral cavity carcinoma To explore the role of polymorphisms of p53-related genes in etiology of oral ca... BeFree 22052649 Detail
Annotation

Annotations

DescrptionSourceLinks
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigate... DisGeNET Detail
Gene
-
dbSNP
rs11801299 dbSNP
Genome
hg38
Position
chr1:204,559,956-204,559,956
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))
rs11801299
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4041
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6772
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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