chr3:148459988:A>C Detail (hg19) (AGTR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:148,459,988-148,459,988 |
| hg38 | chr3:148,742,201-148,742,201 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000685.4:c.*86A>C | |
| NM_031850.3:c.*86A>C | ||
| NM_032049.3:c.*86A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.082 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.059 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely 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
|
2007-08-01 | no assertion criteria provided | Hypertension, essential, susceptibility to |
germline
|
Detail |
|
Benign
|
2018-03-06 | criteria provided, single submitter | Renal tubular dysgenesis |
germline
|
Detail |
|
Benign
|
2021-06-18 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely benign
|
2021-08-16 | criteria provided, single submitter | Essential hypertension, genetic,Renal tubular dysgenesis of genetic origin |
unknown
|
Detail |
|
Likely benign
|
2021-08-16 | criteria provided, single submitter | Essential hypertension, genetic,Renal tubular dysgenesis of genetic origin |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.016 | Metabolic syndrome X | In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... | BeFree | 19619703 | Detail |
| 0.015 | Metabolic syndrome X | In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... | BeFree | 19619703 | Detail |
| 0.013 | Metabolic syndrome X | In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... | BeFree | 19619703 | Detail |
| 0.003 | Metabolic syndrome X | In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... | BeFree | 19619703 | Detail |
| 0.221 | Kidney Diseases | ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of neph... | BeFree | 23081748 | Detail |
| 0.039 | Diabetes Mellitus, Non-Insulin-Dependent | ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of neph... | BeFree | 23081748 | Detail |
| 0.039 | Coronary heart disease | Angiotensin-converting enzyme insertion/deletion (rs4340) and angiotensin II typ... | BeFree | 21722816 | Detail |
| 0.246 | Coronary heart disease | Angiotensin-converting enzyme insertion/deletion (rs4340) and angiotensin II typ... | BeFree | 21722816 | Detail |
| 0.359 | Hypertensive disease | We assessed whether distributions of 3 single nucleotide polymorphisms in genes ... | BeFree | 23339167 | Detail |
| 0.239 | Hypertensive disease | We assessed whether distributions of 3 single nucleotide polymorphisms in genes ... | BeFree | 23339167 | Detail |
| 0.023 | Coronary Arteriosclerosis | Association study of angiotensin II type 1 receptor: A1166C (rs5186) polymorphis... | BeFree | 22645060 | Detail |
| 0.081 | Chronic Kidney Insufficiency | The angiotensin II Type 1 receptor (AT1R) A1166C (rs5186) genez polymorphism is ... | BeFree | 19954723 | Detail |
| 0.011 | Hypercholesterolemia | [The risk of coronary artery disease associated with cigarette smoking and hyper... | GAD | 18787943 | Detail |
| <0.001 | Friedreich ataxia | The AGTR1 polymorphism rs5186 appears to modify the FRDA cardiac phenotype indep... | BeFree | 21771600 | Detail |
| 0.015 | Metabolic syndrome X | Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA hapl... | BeFree | 17211857 | Detail |
| 0.002 | Ischemic Cerebrovascular Accident | A polymorphism in the angiotensin II type 1 receptor gene (AGTR1/rs5186) has bee... | BeFree | 24981111 | Detail |
| 0.003 | Chronic kidney disease stage 5 | The angiotensin II Type 1 receptor (AT1R) A1166C (rs5186) genez polymorphism is ... | BeFree | 19954723 | Detail |
| <0.001 | Prehypertension | The common AGTR1 A1166C (rs5186) polymorphism in the 3'-UTR region, particularly... | BeFree | 20864943 | Detail |
| 0.048 | Kidney Failure, Chronic | The angiotensin II Type 1 receptor (AT1R) A1166C (rs5186) genez polymorphism is ... | BeFree | 19954723 | Detail |
| 0.002 | Ischemic stroke | A polymorphism in the angiotensin II type 1 receptor gene (AGTR1/rs5186) has bee... | BeFree | 24981111 | Detail |
| 0.039 | Coronary heart disease | Association study of angiotensin II type 1 receptor: A1166C (rs5186) polymorphis... | BeFree | 22645060 | Detail |
| 0.032 | coronary artery disease | [The risk of coronary artery disease associated with cigarette smoking and hyper... | GAD | 18787943 | Detail |
| 0.002 | Chronic Kidney Diseases | The angiotensin II Type 1 receptor (AT1R) A1166C (rs5186) genez polymorphism is ... | BeFree | 19954723 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000685.5(AGTR1):c.*86A>C AND Hypertension, essential, susceptibility to | ClinVar | Detail |
| NM_000685.5(AGTR1):c.*86A>C AND Renal tubular dysgenesis | ClinVar | Detail |
| NM_000685.5(AGTR1):c.*86A>C AND not provided | ClinVar | Detail |
| NM_000685.5(AGTR1):c.*86A>C AND multiple conditions | ClinVar | Detail |
| NM_000685.5(AGTR1):c.*86A>C AND multiple conditions | ClinVar | Detail |
| In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... | DisGeNET | Detail |
| In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... | DisGeNET | Detail |
| In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... | DisGeNET | Detail |
| In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... | DisGeNET | Detail |
| ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of nephropathy in Asian Ind... | DisGeNET | Detail |
| ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of nephropathy in Asian Ind... | DisGeNET | Detail |
| Angiotensin-converting enzyme insertion/deletion (rs4340) and angiotensin II type 1 receptor A1166C ... | DisGeNET | Detail |
| Angiotensin-converting enzyme insertion/deletion (rs4340) and angiotensin II type 1 receptor A1166C ... | DisGeNET | Detail |
| We assessed whether distributions of 3 single nucleotide polymorphisms in genes coding for component... | DisGeNET | Detail |
| We assessed whether distributions of 3 single nucleotide polymorphisms in genes coding for component... | DisGeNET | Detail |
| Association study of angiotensin II type 1 receptor: A1166C (rs5186) polymorphism with coronary hear... | DisGeNET | Detail |
| The angiotensin II Type 1 receptor (AT1R) A1166C (rs5186) genez polymorphism is equivocally associat... | DisGeNET | Detail |
| [The risk of coronary artery disease associated with cigarette smoking and hypercholesterolemia is a... | DisGeNET | Detail |
| The AGTR1 polymorphism rs5186 appears to modify the FRDA cardiac phenotype independently of GAA1. | DisGeNET | Detail |
| Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 11... | DisGeNET | Detail |
| A polymorphism in the angiotensin II type 1 receptor gene (AGTR1/rs5186) has been associated with an... | DisGeNET | Detail |
| The angiotensin II Type 1 receptor (AT1R) A1166C (rs5186) genez polymorphism is equivocally associat... | DisGeNET | Detail |
| The common AGTR1 A1166C (rs5186) polymorphism in the 3'-UTR region, particularly the presence of the... | DisGeNET | Detail |
| The angiotensin II Type 1 receptor (AT1R) A1166C (rs5186) genez polymorphism is equivocally associat... | DisGeNET | Detail |
| A polymorphism in the angiotensin II type 1 receptor gene (AGTR1/rs5186) has been associated with an... | DisGeNET | Detail |
| Association study of angiotensin II type 1 receptor: A1166C (rs5186) polymorphism with coronary hear... | DisGeNET | Detail |
| [The risk of coronary artery disease associated with cigarette smoking and hypercholesterolemia is a... | DisGeNET | Detail |
| The angiotensin II Type 1 receptor (AT1R) A1166C (rs5186) genez polymorphism is equivocally associat... | 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
- rs5186 dbSNP
- Genome
- hg19
- Position
- chr3:148,459,988-148,459,988
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs5186
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0818
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1371
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8596
- East Asian Allele Counts (ExAC)
- 504
- East Asian Heterozygous Counts (ExAC)
- 482
- East Asian Homozygous Counts (ExAC)
- 11
- East Asian Allele Frequency (ExAC)
- 0.05863192182410423
- Chromosome Counts in All Race (ExAC)
- 118630
- Allele Counts in All Race (ExAC)
- 26444
- Heterozygous Counts in All Race (ExAC)
- 19412
- Homozygous Counts in All Race (ExAC)
- 3516
- Allele Frequency in All Race (ExAC)
- 0.22291157380089355
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