rs201477273
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs201477273(A;A) |
| Make rs201477273(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 89320857 |
| Gene | POLG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201477273 |
| dbSNP (classic) | rs201477273 |
| ClinGen | rs201477273 |
| ebi | rs201477273 |
| HLI | rs201477273 |
| Exac | rs201477273 |
| Gnomad | rs201477273 |
| Varsome | rs201477273 |
| LitVar | rs201477273 |
| Map | rs201477273 |
| PheGenI | rs201477273 |
| Biobank | rs201477273 |
| 1000 genomes | rs201477273 |
| hgdp | rs201477273 |
| ensembl | rs201477273 |
| geneview | rs201477273 |
| scholar | rs201477273 |
| rs201477273 | |
| pharmgkb | rs201477273 |
| gwascentral | rs201477273 |
| openSNP | rs201477273 |
| 23andMe | rs201477273 |
| SNPshot | rs201477273 |
| SNPdbe | rs201477273 |
| MSV3d | rs201477273 |
| GWAS Ctlg | rs201477273 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201477273(A;A) |
| Alt | rs201477273(A;A) |
| Reference | Rs201477273(G;G) |
| Significance | Pathogenic |
| Disease | not provided not specified Mitochondrial DNA depletion syndrome 4B Progressive sclerosing poliodystrophy |
| Variation | info |
| Gene | POLG |
| CLNDBN | not provided not specified Mitochondrial DNA depletion syndrome 4B, MNGIE type Progressive sclerosing poliodystrophy |
| Reversed | 0 |
| HGVS | NC_000015.9:g.89864088G>A |
| CLNSRC | |
| CLNACC | RCV000188591.4, RCV000271465.1, RCV000490261.1, |
