rs863223416
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;GGTG) | 4.3 | Hereditary hemorrhagic telangiectasia |
| (GGTG;GGTG) | 0 | common in clinvar |
| (TGGG;TGGG) | 0 | common in clinvar |
| Make rs863223416(-;-) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 51913651 |
| Gene | ACVRL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863223416 |
| dbSNP (classic) | rs863223416 |
| ClinGen | rs863223416 |
| ebi | rs863223416 |
| HLI | rs863223416 |
| Exac | rs863223416 |
| Gnomad | rs863223416 |
| Varsome | rs863223416 |
| LitVar | rs863223416 |
| Map | rs863223416 |
| PheGenI | rs863223416 |
| Biobank | rs863223416 |
| 1000 genomes | rs863223416 |
| hgdp | rs863223416 |
| ensembl | rs863223416 |
| geneview | rs863223416 |
| scholar | rs863223416 |
| rs863223416 | |
| pharmgkb | rs863223416 |
| gwascentral | rs863223416 |
| openSNP | rs863223416 |
| 23andMe | rs863223416 |
| SNPshot | rs863223416 |
| SNPdbe | rs863223416 |
| MSV3d | rs863223416 |
| GWAS Ctlg | rs863223416 |
| Max Magnitude | 4.3 |
| ClinVar | |
|---|---|
| Risk | rs863223416(-;-) Rs863223416(TGGG;TGGG) |
| Alt | rs863223416(-;-) Rs863223416(TGGG;TGGG) |
| Reference | Rs863223416(GGTG;GGTG) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ACVRL1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.52307435_52307438delGGTG |
| CLNSRC | |
| CLNACC | RCV000196965.3, |
