rs748949603
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs748949603(A;G) |
| Make rs748949603(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 9 |
| Position | 36219894 |
| Gene | GNE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748949603 |
| dbSNP (classic) | rs748949603 |
| ClinGen | rs748949603 |
| ebi | rs748949603 |
| HLI | rs748949603 |
| Exac | rs748949603 |
| Gnomad | rs748949603 |
| Varsome | rs748949603 |
| LitVar | rs748949603 |
| Map | rs748949603 |
| PheGenI | rs748949603 |
| Biobank | rs748949603 |
| 1000 genomes | rs748949603 |
| hgdp | rs748949603 |
| ensembl | rs748949603 |
| geneview | rs748949603 |
| scholar | rs748949603 |
| rs748949603 | |
| pharmgkb | rs748949603 |
| gwascentral | rs748949603 |
| openSNP | rs748949603 |
| 23andMe | rs748949603 |
| SNPshot | rs748949603 |
| SNPdbe | rs748949603 |
| MSV3d | rs748949603 |
| GWAS Ctlg | rs748949603 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs748949603(G;G) |
| Alt | rs748949603(G;G) |
| Reference | Rs748949603(A;A) |
| Significance | Other |
| Disease | Inclusion body myopathy 2 Nonaka myopathy |
| Variation | info |
| Gene | GNE |
| CLNDBN | Inclusion body myopathy 2 Nonaka myopathy |
| Reversed | 0 |
| HGVS | NC_000009.11:g.36219891A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169236.2, RCV000366480.1, |
