chr3:148725481:C>T Detail (hg38) (AGTR1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:148,443,268-148,443,268 View the variant detail on this assembly version. |
hg38 | chr3:148,725,481-148,725,481 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000685.4:c.-47-15508C>T | |
NM_031850.3:c.-47-15508C>T | ||
NM_004835.4:c.-105-4699C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.138 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | aortic aneurysm | In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and A... | BeFree | 26027897 | Detail |
0.001 | aortic aneurysm | In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and A... | BeFree | 26027897 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and AGTR1 rs12695895-T mi... | DisGeNET | Detail |
In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and AGTR1 rs12695895-T mi... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs12695895 dbSNP
- Genome
- hg38
- Position
- chr3:148,725,481-148,725,481
- 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))
- rs12695895
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1378
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2310
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser