rs104894371
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a mitochondrial myopathy and sideroblastic anemia mutation |
| Make rs104894371(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 131932301 |
| Gene | PUS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894371 |
| dbSNP (classic) | rs104894371 |
| ClinGen | rs104894371 |
| ebi | rs104894371 |
| HLI | rs104894371 |
| Exac | rs104894371 |
| Gnomad | rs104894371 |
| Varsome | rs104894371 |
| LitVar | rs104894371 |
| Map | rs104894371 |
| PheGenI | rs104894371 |
| Biobank | rs104894371 |
| 1000 genomes | rs104894371 |
| hgdp | rs104894371 |
| ensembl | rs104894371 |
| geneview | rs104894371 |
| scholar | rs104894371 |
| rs104894371 | |
| pharmgkb | rs104894371 |
| gwascentral | rs104894371 |
| openSNP | rs104894371 |
| 23andMe | rs104894371 |
| SNPshot | rs104894371 |
| SNPdbe | rs104894371 |
| MSV3d | rs104894371 |
| GWAS Ctlg | rs104894371 |
| Max Magnitude | 3 |
aka c.346C>T (p.Arg116Trp or R116W)
| ClinVar | |
|---|---|
| Risk | rs104894371(T;T) |
| Alt | rs104894371(T;T) |
| Reference | Rs104894371(C;C) |
| Significance | Pathogenic |
| Disease | Myopathy |
| Variation | info |
| Gene | PUS1 |
| CLNDBN | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.132416846C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002645.2, |
