rs730880214
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs730880214(A;A) |
| Make rs730880214(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 67181442 |
| Gene | SMAD3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730880214 |
| dbSNP (classic) | rs730880214 |
| ClinGen | rs730880214 |
| ebi | rs730880214 |
| HLI | rs730880214 |
| Exac | rs730880214 |
| Gnomad | rs730880214 |
| Varsome | rs730880214 |
| LitVar | rs730880214 |
| Map | rs730880214 |
| PheGenI | rs730880214 |
| Biobank | rs730880214 |
| 1000 genomes | rs730880214 |
| hgdp | rs730880214 |
| ensembl | rs730880214 |
| geneview | rs730880214 |
| scholar | rs730880214 |
| rs730880214 | |
| pharmgkb | rs730880214 |
| gwascentral | rs730880214 |
| openSNP | rs730880214 |
| 23andMe | rs730880214 |
| SNPshot | rs730880214 |
| SNPdbe | rs730880214 |
| MSV3d | rs730880214 |
| GWAS Ctlg | rs730880214 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs730880214(A;A) |
| Alt | rs730880214(A;A) |
| Reference | Rs730880214(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Loeys-Dietz syndrome not provided |
| Variation | info |
| Gene | SMAD3 |
| CLNDBN | Loeys-Dietz syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.67473780G>A |
| CLNSRC | |
| CLNACC | RCV000157501.1, RCV000197902.4, |
