chr3:30647160:A>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:30,647,160-30,647,160 |
| hg38 | chr3:30,605,668-30,605,668 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.126 | congenital heart defects | To evaluate the impact of transforming growth factor-β1 (TGFβ1), TGFβ receptor I... | BeFree | 24443223 | Detail |
Annotation
Genome browser