chr1:230714337:C>T Detail (hg38) (AGT)

Information

Genome

Assembly Position
hg19 chr1:230,850,083-230,850,083 View the variant detail on this assembly version.
hg38 chr1:230,714,337-230,714,337

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000679684.1:c.-282G>A
ENST00000679957.1:c.-282G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.165
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
Type Database ID Link
Gene MIM 106150 OMIM
HGNC 333 HGNC
Ensembl ENSG00000135744 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5135291 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-06-14 criteria provided, single submitter Renal tubular dysgenesis germline Detail
Benign 2019-04-18 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
0.440 Hypertensive disease We found that the A/A genotype at rs5049 was a risk factor for hypertension (P=0... BeFree 23324949 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001382817.3(AGT):c.-30-3484G>A AND Renal tubular dysgenesis ClinVar Detail
NM_001382817.3(AGT):c.-30-3484G>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
We found that the A/A genotype at rs5049 was a risk factor for hypertension (P=0.025) in the Melanes... 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
rs5049 dbSNP
Genome
hg38
Position
chr1:230,714,337-230,714,337
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs5049
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1647
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2761
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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