rs879253979
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs879253979(C;G) |
| Make rs879253979(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 14 |
| Position | 101979951 |
| Gene | DYNC1H1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879253979 |
| dbSNP (classic) | rs879253979 |
| ClinGen | rs879253979 |
| ebi | rs879253979 |
| HLI | rs879253979 |
| Exac | rs879253979 |
| Gnomad | rs879253979 |
| Varsome | rs879253979 |
| LitVar | rs879253979 |
| Map | rs879253979 |
| PheGenI | rs879253979 |
| Biobank | rs879253979 |
| 1000 genomes | rs879253979 |
| hgdp | rs879253979 |
| ensembl | rs879253979 |
| geneview | rs879253979 |
| scholar | rs879253979 |
| rs879253979 | |
| pharmgkb | rs879253979 |
| gwascentral | rs879253979 |
| openSNP | rs879253979 |
| 23andMe | rs879253979 |
| SNPshot | rs879253979 |
| SNPdbe | rs879253979 |
| MSV3d | rs879253979 |
| GWAS Ctlg | rs879253979 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs879253979(G;G) rs879253979(T;T) |
| Alt | rs879253979(G;G) rs879253979(T;T) |
| Reference | Rs879253979(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified Distal lower limb amyotrophy Hammertoe Myopathy Pes cavus |
| Variation | info |
| Gene | DYNC1H1 |
| CLNDBN | not specified Distal lower limb amyotrophy Hammertoe Myopathy Pes cavus |
| Reversed | 0 |
| HGVS | NC_000014.8:g.102446288C>G; NC_000014.8:g.102446288C>T |
| CLNSRC | |
| CLNACC | RCV000235525.1, RCV000414974.1, |
