chr22:36474424:T>C Detail (hg38) (TXN2)

Information

Genome

Assembly Position
hg19 chr22:36,870,471-36,870,471 View the variant detail on this assembly version.
hg38 chr22:36,474,424-36,474,424

HGVS

Type Transcript Protein
RefSeq NM_012473.3:c.387+2309A>G
NM_012473.3:c.81+2309A>G
Ensemble ENST00000216185.7:c.387+2309A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.308
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 609063 OMIM
HGNC 17772 HGNC
Ensembl ENSG00000100348 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65861913 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 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2267337 dbSNP
Genome
hg38
Position
chr22:36,474,424-36,474,424
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2267337
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3079
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5160
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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