rs200273673
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs200273673(C;T) |
| Make rs200273673(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 102232231 |
| Gene | RRM2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200273673 |
| dbSNP (classic) | rs200273673 |
| ClinGen | rs200273673 |
| ebi | rs200273673 |
| HLI | rs200273673 |
| Exac | rs200273673 |
| Gnomad | rs200273673 |
| Varsome | rs200273673 |
| LitVar | rs200273673 |
| Map | rs200273673 |
| PheGenI | rs200273673 |
| Biobank | rs200273673 |
| 1000 genomes | rs200273673 |
| hgdp | rs200273673 |
| ensembl | rs200273673 |
| geneview | rs200273673 |
| scholar | rs200273673 |
| rs200273673 | |
| pharmgkb | rs200273673 |
| gwascentral | rs200273673 |
| openSNP | rs200273673 |
| 23andMe | rs200273673 |
| SNPshot | rs200273673 |
| SNPdbe | rs200273673 |
| MSV3d | rs200273673 |
| GWAS Ctlg | rs200273673 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200273673(G;G) rs200273673(T;T) |
| Alt | rs200273673(G;G) rs200273673(T;T) |
| Reference | Rs200273673(C;C) |
| Significance | Pathogenic |
| Disease | RRM2B-related mitochondrial disease |
| Variation | info |
| Gene | RRM2B |
| CLNDBN | RRM2B-related mitochondrial disease |
| Reversed | 0 |
| HGVS | NC_000008.10:g.103244459C>G; NC_000008.10:g.103244459C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000118985.2, RCV000118984.2, |
