rs199877522
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199877522(A;A) |
| Make rs199877522(A;C) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 9 |
| Position | 36227397 |
| Gene | GNE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199877522 |
| dbSNP (classic) | rs199877522 |
| ClinGen | rs199877522 |
| ebi | rs199877522 |
| HLI | rs199877522 |
| Exac | rs199877522 |
| Gnomad | rs199877522 |
| Varsome | rs199877522 |
| LitVar | rs199877522 |
| Map | rs199877522 |
| PheGenI | rs199877522 |
| Biobank | rs199877522 |
| 1000 genomes | rs199877522 |
| hgdp | rs199877522 |
| ensembl | rs199877522 |
| geneview | rs199877522 |
| scholar | rs199877522 |
| rs199877522 | |
| pharmgkb | rs199877522 |
| gwascentral | rs199877522 |
| openSNP | rs199877522 |
| 23andMe | rs199877522 |
| SNPshot | rs199877522 |
| SNPdbe | rs199877522 |
| MSV3d | rs199877522 |
| GWAS Ctlg | rs199877522 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199877522(A;A) rs199877522(T;T) |
| Alt | rs199877522(A;A) rs199877522(T;T) |
| Reference | Rs199877522(C;C) |
| Significance | Pathogenic |
| Disease | Inclusion body myopathy 2 not provided |
| Variation | info |
| Gene | GNE |
| CLNDBN | Inclusion body myopathy 2 not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.36227394C>A |
| CLNSRC | |
| CLNACC | RCV000405240.1, RCV000484722.1, |
