rs138048445
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs138048445(A;A) |
| Make rs138048445(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 51914495 |
| Gene | ACVRL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138048445 |
| dbSNP (classic) | rs138048445 |
| ClinGen | rs138048445 |
| ebi | rs138048445 |
| HLI | rs138048445 |
| Exac | rs138048445 |
| Gnomad | rs138048445 |
| Varsome | rs138048445 |
| LitVar | rs138048445 |
| Map | rs138048445 |
| PheGenI | rs138048445 |
| Biobank | rs138048445 |
| 1000 genomes | rs138048445 |
| hgdp | rs138048445 |
| ensembl | rs138048445 |
| geneview | rs138048445 |
| scholar | rs138048445 |
| rs138048445 | |
| pharmgkb | rs138048445 |
| gwascentral | rs138048445 |
| openSNP | rs138048445 |
| 23andMe | rs138048445 |
| SNPshot | rs138048445 |
| SNPdbe | rs138048445 |
| MSV3d | rs138048445 |
| GWAS Ctlg | rs138048445 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138048445(A;A) |
| Alt | rs138048445(A;A) |
| Reference | Rs138048445(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ACVRL1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.52308279G>A |
| CLNSRC | |
| CLNACC | RCV000198425.2, |
