chr22:38719189:A>G Detail (hg19) (TPTEP2-CSNK1E)

Information

Genome

Assembly Position
hg19 chr22:38,719,189-38,719,189
hg38 chr22:38,323,184-38,323,184 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001289912.1:c.-12-9015T>C
Ensemble ENST00000400206.7:c.-12-9015T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.549
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
Type Database ID Link
Gene MIM
HGNC 53829 HGNC
Ensembl ENSG00000283900 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65929272 TogoVar
COSMIC
MONDO
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 In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.001 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
<0.001 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.003 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.009 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.003 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.001 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
Annotation

Annotations

DescrptionSourceLinks
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs5757037 dbSNP
Genome
hg19
Position
chr22:38,719,189-38,719,189
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))
rs5757037
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5487
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9196
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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