chr3:30694445:G>A Detail (hg38) (TGFBR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:30,735,937-30,735,937 View the variant detail on this assembly version. |
| hg38 | chr3:30,694,445-30,694,445 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.074 | |
| 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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-19 | criteria provided, single submitter | Familial thoracic aortic aneurysm and aortic dissection |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.015 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
| 0.003 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
| <0.001 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
| <0.001 | leprosy | Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... | BeFree | 21917900 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000003.12:g.30694445G>A AND Familial thoracic aortic aneurysm and aortic dissection | ClinVar | Detail |
| Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
| Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
| Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
| Significant associations (P < .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs744751 dbSNP
- Genome
- hg38
- Position
- chr3:30,694,445-30,694,445
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs744751
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0737
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1235
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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