chr3:148741608:C>T Detail (hg38) (AGTR1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:148,459,395-148,459,395 View the variant detail on this assembly version. |
hg38 | chr3:148,741,608-148,741,608 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000685.4:c.573C>T | NP_000676.1:p.Leu191= |
NM_031850.3:c.573C>T | NP_114038.4:p.Leu191= | |
NM_032049.3:c.573C>T | NP_114438.2:p.Leu191= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.646 |
ToMMo:0.645 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.702 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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criteria provided, single submitter | not specified |
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Detail | |
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2021-07-14 | criteria provided, multiple submitters, no conflicts | Renal tubular dysgenesis |
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Detail |
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2024-01-31 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.003 | Chronic Kidney Diseases | We conclude that ACE-A2350G and AGTR1-C573T polymorphisms are likely candidate d... | BeFree | 22147663 | Detail |
0.011 | myocardial infarction | This study investigates whether the interaction between angiotensin-converting e... | BeFree | 18347611 | Detail |
0.241 | atherosclerosis | To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletio... | BeFree | 17298481 | Detail |
0.029 | Cerebrovascular accident | This study investigates whether the interaction between angiotensin-converting e... | BeFree | 18347611 | Detail |
0.002 | Chronic Kidney Diseases | We conclude that ACE-A2350G and AGTR1-C573T polymorphisms are likely candidate d... | BeFree | 22147663 | Detail |
0.147 | myocardial infarction | This study investigates whether the interaction between angiotensin-converting e... | BeFree | 18347611 | Detail |
0.002 | arteriosclerosis | To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletio... | BeFree | 17298481 | Detail |
0.011 | Hypertensive disease | Although the AGTR1 SNP did not show any association with WMLs, the interaction o... | BeFree | 24622918 | Detail |
0.038 | atherosclerosis | To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletio... | BeFree | 17298481 | Detail |
0.012 | arteriosclerosis | To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletio... | BeFree | 17298481 | Detail |
0.359 | Hypertensive disease | Although the AGTR1 SNP did not show any association with WMLs, the interaction o... | BeFree | 24622918 | Detail |
0.080 | Cerebrovascular accident | This study investigates whether the interaction between angiotensin-converting e... | BeFree | 18347611 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) AND not specified | ClinVar | Detail |
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) AND Renal tubular dysgenesis | ClinVar | Detail |
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) AND not provided | ClinVar | Detail |
We conclude that ACE-A2350G and AGTR1-C573T polymorphisms are likely candidate determinants of CKD. | DisGeNET | Detail |
This study investigates whether the interaction between angiotensin-converting enzyme (ACE) inhibito... | DisGeNET | Detail |
To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensin... | DisGeNET | Detail |
This study investigates whether the interaction between angiotensin-converting enzyme (ACE) inhibito... | DisGeNET | Detail |
We conclude that ACE-A2350G and AGTR1-C573T polymorphisms are likely candidate determinants of CKD. | DisGeNET | Detail |
This study investigates whether the interaction between angiotensin-converting enzyme (ACE) inhibito... | DisGeNET | Detail |
To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensin... | DisGeNET | Detail |
Although the AGTR1 SNP did not show any association with WMLs, the interaction of the AGT rs699 and ... | DisGeNET | Detail |
To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensin... | DisGeNET | Detail |
To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensin... | DisGeNET | Detail |
Although the AGTR1 SNP did not show any association with WMLs, the interaction of the AGT rs699 and ... | DisGeNET | Detail |
This study investigates whether the interaction between angiotensin-converting enzyme (ACE) inhibito... | 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
- rs5182 dbSNP
- Genome
- hg38
- Position
- chr3:148,741,608-148,741,608
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1192
- Mean of sample read depth (HGVD)
- 121.73
- Standard deviation of sample read depth (HGVD)
- 51.51
- Number of reference allele (HGVD)
- 843
- Number of alternative allele (HGVD)
- 1540
- Allele Frequency (HGVD)
- 0.6462442299622325
- Gene Symbol (HGVD)
- AGTR1
- 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))
- rs5182
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6453
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10815
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 6067
- East Asian Heterozygous Counts (ExAC)
- 1797
- East Asian Homozygous Counts (ExAC)
- 2135
- East Asian Allele Frequency (ExAC)
- 0.7021990740740741
- Chromosome Counts in All Race (ExAC)
- 120780
- Allele Counts in All Race (ExAC)
- 58422
- Heterozygous Counts in All Race (ExAC)
- 28734
- Homozygous Counts in All Race (ExAC)
- 14844
- Allele Frequency in All Race (ExAC)
- 0.48370591157476406
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