chr17:63476833:T>A Detail (hg38) (ACE)

Information

Genome

Assembly Position
hg19 chr17:61,554,194-61,554,194 View the variant detail on this assembly version.
hg38 chr17:63,476,833-63,476,833

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.641
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 Hypertensive disease Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... BeFree 21157371 Detail
0.265 coronary artery disease Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... BeFree 21157371 Detail
<0.001 Vascular Diseases Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... BeFree 21157371 Detail
0.042 coronary artery disease Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... BeFree 21157371 Detail
<0.001 coronary artery disease Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... BeFree 21157371 Detail
0.005 Vascular Diseases Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... BeFree 21157371 Detail
0.261 Cardiovascular Diseases The ACE rs4291 TT genotype, which has been associated with HPA axis hyperactivit... BeFree 23055331 Detail
0.003 major depressive disorder Variants of the ACE gene such as SNP rs4291 are suggested susceptibility factors... BeFree 16924268 Detail
0.261 Cardiovascular Diseases We could show that SNP rs4291 influences ACE activity and HPA-axis hyperactivity... BeFree 16924268 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000017.11:g.63476833T>A AND not provided ClinVar Detail
Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... DisGeNET Detail
Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... DisGeNET Detail
Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... DisGeNET Detail
Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... DisGeNET Detail
Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... DisGeNET Detail
Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... DisGeNET Detail
The ACE rs4291 TT genotype, which has been associated with HPA axis hyperactivity and higher levels ... DisGeNET Detail
Variants of the ACE gene such as SNP rs4291 are suggested susceptibility factors for unipolar major ... DisGeNET Detail
We could show that SNP rs4291 influences ACE activity and HPA-axis hyperactivity and might therefore... DisGeNET Detail
Gene
-
dbSNP
rs4291 dbSNP
Genome
hg38
Position
chr17:63,476,833-63,476,833
Variant Type
snv
Reference Allele
T
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))
rs4291
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6405
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10732
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
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