rs779694939
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs779694939(A;G) |
| Make rs779694939(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 36236954 |
| Gene | GNE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs779694939 |
| dbSNP (classic) | rs779694939 |
| ClinGen | rs779694939 |
| ebi | rs779694939 |
| HLI | rs779694939 |
| Exac | rs779694939 |
| Gnomad | rs779694939 |
| Varsome | rs779694939 |
| LitVar | rs779694939 |
| Map | rs779694939 |
| PheGenI | rs779694939 |
| Biobank | rs779694939 |
| 1000 genomes | rs779694939 |
| hgdp | rs779694939 |
| ensembl | rs779694939 |
| geneview | rs779694939 |
| scholar | rs779694939 |
| rs779694939 | |
| pharmgkb | rs779694939 |
| gwascentral | rs779694939 |
| openSNP | rs779694939 |
| 23andMe | rs779694939 |
| SNPshot | rs779694939 |
| SNPdbe | rs779694939 |
| MSV3d | rs779694939 |
| GWAS Ctlg | rs779694939 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs779694939(G;G) |
| Alt | rs779694939(G;G) |
| Reference | Rs779694939(A;A) |
| Significance | Pathogenic |
| Disease | Nonaka myopathy not provided Inclusion body myopathy 2 |
| Variation | info |
| Gene | GNE |
| CLNDBN | Nonaka myopathy not provided Inclusion body myopathy 2 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.36236951A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000202427.1, RCV000255797.1, RCV000407674.1, |
