chr12:50819982:T>C Detail (hg38) (ATF1)

Information

Genome

Assembly Position
hg19 chr12:51,213,765-51,213,765 View the variant detail on this assembly version.
hg38 chr12:50,819,982-50,819,982

HGVS

Type Transcript Protein
RefSeq NM_005171.4:c.*203T>C
Ensemble ENST00000262053.8:c.*203T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.362
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 123803 OMIM
HGNC 783 HGNC
Ensembl ENSG00000123268 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45845255 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
0.080 ovarian carcinoma Based on Cox regression and Kaplan-Meier analyses, statistically significant dif... BeFree 19950226 Detail
0.280 Malignant neoplasm of ovary Based on Cox regression and Kaplan-Meier analyses, statistically significant dif... BeFree 19950226 Detail
<0.001 essential hypertension The human ATF1 rs11169571 polymorphism increases essential hypertension risk thr... BeFree 26149214 Detail
<0.001 essential hypertension These results suggested that rs11169571 of ATF1 gene may be associated with EH, ... BeFree 26149214 Detail
Annotation

Annotations

DescrptionSourceLinks
Based on Cox regression and Kaplan-Meier analyses, statistically significant differences were noted ... DisGeNET Detail
Based on Cox regression and Kaplan-Meier analyses, statistically significant differences were noted ... DisGeNET Detail
The human ATF1 rs11169571 polymorphism increases essential hypertension risk through modifying miRNA... DisGeNET Detail
These results suggested that rs11169571 of ATF1 gene may be associated with EH, and the SNP-modified... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11169571 dbSNP
Genome
hg38
Position
chr12:50,819,982-50,819,982
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))
rs11169571
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3624
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6073
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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