rs154001
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs154001(C;T) |
| Make rs154001(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 128349443 |
| Gene | FBN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs154001 |
| dbSNP (classic) | rs154001 |
| ClinGen | rs154001 |
| ebi | rs154001 |
| HLI | rs154001 |
| Exac | rs154001 |
| Gnomad | rs154001 |
| Varsome | rs154001 |
| LitVar | rs154001 |
| Map | rs154001 |
| PheGenI | rs154001 |
| Biobank | rs154001 |
| 1000 genomes | rs154001 |
| hgdp | rs154001 |
| ensembl | rs154001 |
| geneview | rs154001 |
| scholar | rs154001 |
| rs154001 | |
| pharmgkb | rs154001 |
| gwascentral | rs154001 |
| openSNP | rs154001 |
| 23andMe | rs154001 |
| SNPshot | rs154001 |
| SNPdbe | rs154001 |
| MSV3d | rs154001 |
| GWAS Ctlg | rs154001 |
| GMAF | 0.27 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs154001(T;T) |
| Alt | rs154001(T;T) |
| Reference | Rs154001(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly |
| Variation | info |
| Gene | FBN2 |
| CLNDBN | not specified Thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly |
| Reversed | 0 |
| HGVS | NC_000005.9:g.127685135C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000117020.4, RCV000244792.1, RCV000342582.1, |
