chr1:230845794:A>G Detail (hg19) (AGT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:230,845,794-230,845,794 |
| hg38 | chr1:230,710,048-230,710,048 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000029.3:c.776T>C | NP_000020.1:p.Met259Thr |
| Ensemble | ENST00000679957.1:c.776T>C | ENST00000679957.1:p.Met259Thr |
| ENST00000681514.1:c.776T>C | ENST00000681514.1:p.Met259Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.823 |
| ToMMo:0.816 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.838 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2005-01-01 | no assertion criteria provided | Hypertension, essential, susceptibility to |
germline
|
Detail |
|
risk factor
|
2005-01-01 | no assertion criteria provided | Preeclampsia, susceptibility to |
germline
|
Detail |
|
risk factor
|
2005-01-01 | no assertion criteria provided | Susceptibility to progression to renal failure in IgA nephropathy |
germline
|
Detail |
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2021-07-14 | criteria provided, multiple submitters, no conflicts | Renal tubular dysgenesis |
germline
|
Detail |
|
Benign
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2021-10-12 | no assertion criteria provided | Hypertensive disorder |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.011 | Hypertensive disease | Hypertension association reached genome-wide significance for the two variants, ... | BeFree | 22456346 | Detail |
| 0.003 | Chronic glomerulonephritis | We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... | BeFree | 23681285 | Detail |
| <0.001 | Chronic glomerulonephritis | We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... | BeFree | 23681285 | Detail |
| 0.003 | Chronic glomerulonephritis | We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... | BeFree | 23681285 | Detail |
| 0.153 | Kidney Diseases | ACE ID/DD genotypes in combination with ACE rs4311, rs4343, and AGT rs699 mutant... | BeFree | 19108684 | Detail |
| 0.440 | Hypertensive disease | When the cohort was stratified by sex, ACE rs4362 and AGT rs699 showed significa... | BeFree | 24622918 | Detail |
| 0.011 | Hypertensive disease | Although the AGTR1 SNP did not show any association with WMLs, the interaction o... | BeFree | 24622918 | Detail |
| 0.359 | Hypertensive disease | Although the AGTR1 SNP did not show any association with WMLs, the interaction o... | BeFree | 24622918 | Detail |
| 0.203 | Kidney Diseases | Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... | BeFree | 24737640 | Detail |
| 0.008 | Hepatitis C, Chronic | Evaluation of angiotensinogen c.1-44G>A and p.M268T variants as risk factors ... | BeFree | 19473084 | Detail |
| 0.440 | Hypertensive disease | These data further support the hypothesis that hypertension is influenced by the... | BeFree | 21312059 | Detail |
| 0.013 | diabetes mellitus | Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... | BeFree | 24737640 | Detail |
| 0.157 | Diabetic Nephropathy | The AGT (M268T) genotypes were distributed in DM as TT 30.4%, MT 66.9% and MM 2.... | BeFree | 24737640 | Detail |
| 0.017 | Diabetes | Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... | BeFree | 24737640 | Detail |
| 0.120 | IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO | NA | CLINVAR | Detail | |
| 0.153 | Kidney Diseases | Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... | BeFree | 24737640 | Detail |
| 0.003 | Liver diseases | Evaluation of angiotensinogen c.1-44G>A and p.M268T variants as risk factors ... | BeFree | 19473084 | Detail |
| 0.171 | essential hypertension | Association between the M268T polymorphism in the angiotensinogen gene and essen... | BeFree | 21312059 | Detail |
| 0.034 | diabetes mellitus | Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... | BeFree | 24737640 | Detail |
| 0.007 | Diabetes | Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... | BeFree | 24737640 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Hypertension, essential, susceptibility to | ClinVar | Detail |
| NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Preeclampsia, susceptibility to | ClinVar | Detail |
| NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Susceptibility to progression to renal failure in IgA ne... | ClinVar | Detail |
| NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND not specified | ClinVar | Detail |
| NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Renal tubular dysgenesis | ClinVar | Detail |
| NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND not provided | ClinVar | Detail |
| NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Hypertensive disorder | ClinVar | Detail |
| Hypertension association reached genome-wide significance for the two variants, specifically, P=7.3 ... | DisGeNET | Detail |
| We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... | DisGeNET | Detail |
| We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... | DisGeNET | Detail |
| We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... | DisGeNET | Detail |
| ACE ID/DD genotypes in combination with ACE rs4311, rs4343, and AGT rs699 mutant genotypes increased... | DisGeNET | Detail |
| When the cohort was stratified by sex, ACE rs4362 and AGT rs699 showed significant associations with... | DisGeNET | Detail |
| Although the AGTR1 SNP did not show any association with WMLs, the interaction of the AGT rs699 and ... | DisGeNET | Detail |
| Although the AGTR1 SNP did not show any association with WMLs, the interaction of the AGT rs699 and ... | DisGeNET | Detail |
| Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... | DisGeNET | Detail |
| Evaluation of angiotensinogen c.1-44G>A and p.M268T variants as risk factors for fibrosis progres... | DisGeNET | Detail |
| These data further support the hypothesis that hypertension is influenced by the AGT M268T polymorph... | DisGeNET | Detail |
| Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... | DisGeNET | Detail |
| The AGT (M268T) genotypes were distributed in DM as TT 30.4%, MT 66.9% and MM 2.6% while in DN subje... | DisGeNET | Detail |
| Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... | DisGeNET | Detail |
| Evaluation of angiotensinogen c.1-44G>A and p.M268T variants as risk factors for fibrosis progres... | DisGeNET | Detail |
| Association between the M268T polymorphism in the angiotensinogen gene and essential hypertension in... | DisGeNET | Detail |
| Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... | DisGeNET | Detail |
| Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... | 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
- rs699 dbSNP
- Genome
- hg19
- Position
- chr1:230,845,794-230,845,794
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1207
- Mean of sample read depth (HGVD)
- 53.02
- Standard deviation of sample read depth (HGVD)
- 32.09
- Number of reference allele (HGVD)
- 428
- Number of alternative allele (HGVD)
- 1986
- Allele Frequency (HGVD)
- 0.8227009113504556
- Gene Symbol (HGVD)
- AGT
- 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))
- rs699
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8161
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13677
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8636
- East Asian Allele Counts (ExAC)
- 7235
- East Asian Heterozygous Counts (ExAC)
- 1199
- East Asian Homozygous Counts (ExAC)
- 3018
- East Asian Allele Frequency (ExAC)
- 0.8377721167207041
- Chromosome Counts in All Race (ExAC)
- 121284
- Allele Counts in All Race (ExAC)
- 66516
- Heterozygous Counts in All Race (ExAC)
- 26642
- Homozygous Counts in All Race (ExAC)
- 19937
- Allele Frequency in All Race (ExAC)
- 0.548431779954487
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