rs193922246
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TAAAAT) | 5.5 | Marfan syndrome mutation |
| (TAAAAT;TAAAAT) | 0 | common in clinvar |
| Make rs193922246(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 48411189 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922246 |
| dbSNP (classic) | rs193922246 |
| ClinGen | rs193922246 |
| ebi | rs193922246 |
| HLI | rs193922246 |
| Exac | rs193922246 |
| Gnomad | rs193922246 |
| Varsome | rs193922246 |
| LitVar | rs193922246 |
| Map | rs193922246 |
| PheGenI | rs193922246 |
| Biobank | rs193922246 |
| 1000 genomes | rs193922246 |
| hgdp | rs193922246 |
| ensembl | rs193922246 |
| geneview | rs193922246 |
| scholar | rs193922246 |
| rs193922246 | |
| pharmgkb | rs193922246 |
| gwascentral | rs193922246 |
| openSNP | rs193922246 |
| 23andMe | rs193922246 |
| SNPshot | rs193922246 |
| SNPdbe | rs193922246 |
| MSV3d | rs193922246 |
| GWAS Ctlg | rs193922246 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | rs193922246(-;-) |
| Alt | rs193922246(-;-) |
| Reference | Rs193922246(TAAAAT;TAAAAT) |
| Significance | Probable-Pathogenic |
| Disease | Marfan syndrome |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Marfan syndrome |
| Reversed | 1 |
| HGVS | NC_000015.9:g.48703386_48703391delATTTTA |
| CLNSRC | ClinVar |
| CLNACC | RCV000029794.1, |
