rs121908627
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121908627(A;A) |
| Make rs121908627(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 36217448 |
| Gene | GNE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908627 |
| dbSNP (classic) | rs121908627 |
| ClinGen | rs121908627 |
| ebi | rs121908627 |
| HLI | rs121908627 |
| Exac | rs121908627 |
| Gnomad | rs121908627 |
| Varsome | rs121908627 |
| LitVar | rs121908627 |
| Map | rs121908627 |
| PheGenI | rs121908627 |
| Biobank | rs121908627 |
| 1000 genomes | rs121908627 |
| hgdp | rs121908627 |
| ensembl | rs121908627 |
| geneview | rs121908627 |
| scholar | rs121908627 |
| rs121908627 | |
| pharmgkb | rs121908627 |
| gwascentral | rs121908627 |
| openSNP | rs121908627 |
| 23andMe | rs121908627 |
| SNPshot | rs121908627 |
| SNPdbe | rs121908627 |
| MSV3d | rs121908627 |
| GWAS Ctlg | rs121908627 |
| GMAF | 0.0 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121908627(A;A) rs121908627(T;T) |
| Alt | rs121908627(A;A) rs121908627(T;T) |
| Reference | Rs121908627(G;G) |
| Significance | Other |
| Disease | not specified Nonaka myopathy Sialuria Inclusion Body Myopathy not provided Inclusion body myopathy 2 |
| Variation | info |
| Gene | GNE |
| CLNDBN | not specified Nonaka myopathy Sialuria Inclusion Body Myopathy, Recessive not provided Inclusion body myopathy 2 |
| Reversed | 1 |
| HGVS | NC_000009.11:g.36217445C>A; NC_000009.11:g.36217445C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000255396.2, RCV000277092.1, RCV000315879.1, RCV000372863.1, RCV000430334.1, RCV000006399.8, RCV000202424.2, RCV000255973.1, RCV000363110.1, RCV000477793.1, |
