rs372872777
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs372872777(A;A) |
| Make rs372872777(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 36246262 |
| Gene | GNE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs372872777 |
| dbSNP (classic) | rs372872777 |
| ClinGen | rs372872777 |
| ebi | rs372872777 |
| HLI | rs372872777 |
| Exac | rs372872777 |
| Gnomad | rs372872777 |
| Varsome | rs372872777 |
| LitVar | rs372872777 |
| Map | rs372872777 |
| PheGenI | rs372872777 |
| Biobank | rs372872777 |
| 1000 genomes | rs372872777 |
| hgdp | rs372872777 |
| ensembl | rs372872777 |
| geneview | rs372872777 |
| scholar | rs372872777 |
| rs372872777 | |
| pharmgkb | rs372872777 |
| gwascentral | rs372872777 |
| openSNP | rs372872777 |
| 23andMe | rs372872777 |
| SNPshot | rs372872777 |
| SNPdbe | rs372872777 |
| MSV3d | rs372872777 |
| GWAS Ctlg | rs372872777 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs372872777(A;A) |
| Alt | rs372872777(A;A) |
| Reference | Rs372872777(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Inclusion body myopathy 2 |
| Variation | info |
| Gene | GNE |
| CLNDBN | Inclusion body myopathy 2 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.36246259G>A |
| CLNSRC | |
| CLNACC | RCV000411076.1, |
