rs999380946
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 12 |
| Position | 51914046 |
| Gene | ACVRL1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs999380946 |
| dbSNP (classic) | rs999380946 |
| ClinGen | rs999380946 |
| ebi | rs999380946 |
| HLI | rs999380946 |
| Exac | rs999380946 |
| Gnomad | rs999380946 |
| Varsome | rs999380946 |
| LitVar | rs999380946 |
| Map | rs999380946 |
| PheGenI | rs999380946 |
| Biobank | rs999380946 |
| 1000 genomes | rs999380946 |
| hgdp | rs999380946 |
| ensembl | rs999380946 |
| geneview | rs999380946 |
| scholar | rs999380946 |
| rs999380946 | |
| pharmgkb | rs999380946 |
| gwascentral | rs999380946 |
| openSNP | rs999380946 |
| 23andMe | rs999380946 |
| SNPshot | rs999380946 |
| SNPdbe | rs999380946 |
| MSV3d | rs999380946 |
| GWAS Ctlg | rs999380946 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs999380946(T;T) |
| Alt | rs999380946(T;T) |
| Reference | Rs999380946(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.52307830C>T |
| CLNSRC | |
| CLNACC | RCV000493276.1, |
