rs387906742
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs387906742(A;G) |
| Make rs387906742(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 101986236 |
| Gene | DYNC1H1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387906742 |
| dbSNP (classic) | rs387906742 |
| ClinGen | rs387906742 |
| ebi | rs387906742 |
| HLI | rs387906742 |
| Exac | rs387906742 |
| Gnomad | rs387906742 |
| Varsome | rs387906742 |
| LitVar | rs387906742 |
| Map | rs387906742 |
| PheGenI | rs387906742 |
| Biobank | rs387906742 |
| 1000 genomes | rs387906742 |
| hgdp | rs387906742 |
| ensembl | rs387906742 |
| geneview | rs387906742 |
| scholar | rs387906742 |
| rs387906742 | |
| pharmgkb | rs387906742 |
| gwascentral | rs387906742 |
| openSNP | rs387906742 |
| 23andMe | rs387906742 |
| SNPshot | rs387906742 |
| SNPdbe | rs387906742 |
| MSV3d | rs387906742 |
| GWAS Ctlg | rs387906742 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs387906742(G;G) |
| Alt | rs387906742(G;G) |
| Reference | Rs387906742(A;A) |
| Significance | Pathogenic |
| Disease | Spinal muscular atrophy |
| Variation | info |
| Gene | DYNC1H1 |
| CLNDBN | Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000014.8:g.102452573A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022933.3, |
