rs8046180
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs8046180(A;A) |
| Make rs8046180(A;C) |
| Make rs8046180(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 15721599 |
| Gene | MYH11, NDE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8046180 |
| dbSNP (classic) | rs8046180 |
| ClinGen | rs8046180 |
| ebi | rs8046180 |
| HLI | rs8046180 |
| Exac | rs8046180 |
| Gnomad | rs8046180 |
| Varsome | rs8046180 |
| LitVar | rs8046180 |
| Map | rs8046180 |
| PheGenI | rs8046180 |
| Biobank | rs8046180 |
| 1000 genomes | rs8046180 |
| hgdp | rs8046180 |
| ensembl | rs8046180 |
| geneview | rs8046180 |
| scholar | rs8046180 |
| rs8046180 | |
| pharmgkb | rs8046180 |
| gwascentral | rs8046180 |
| openSNP | rs8046180 |
| 23andMe | rs8046180 |
| SNPshot | rs8046180 |
| SNPdbe | rs8046180 |
| MSV3d | rs8046180 |
| GWAS Ctlg | rs8046180 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs8046180(A;A) rs8046180(C;C) |
| Alt | rs8046180(A;A) rs8046180(C;C) |
| Reference | Rs8046180(G;G) |
| Significance | Other |
| Disease | not specified Aortic aneurysm Thoracic aortic aneurysm and aortic dissection Lissencephaly |
| Variation | info |
| Gene | NDE1 MYH11 |
| CLNDBN | not specified Aortic aneurysm, familial thoracic 4 Thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive |
| Reversed | 0 |
| HGVS | NC_000016.9:g.15815456G>A |
| CLNSRC | |
| CLNACC | RCV000126951.3, RCV000229335.2, RCV000247892.2, RCV000322004.1, |
