rs182614164
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs182614164(C;G) |
| Make rs182614164(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 102212833 |
| Gene | RRM2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs182614164 |
| dbSNP (classic) | rs182614164 |
| ClinGen | rs182614164 |
| ebi | rs182614164 |
| HLI | rs182614164 |
| Exac | rs182614164 |
| Gnomad | rs182614164 |
| Varsome | rs182614164 |
| LitVar | rs182614164 |
| Map | rs182614164 |
| PheGenI | rs182614164 |
| Biobank | rs182614164 |
| 1000 genomes | rs182614164 |
| hgdp | rs182614164 |
| ensembl | rs182614164 |
| geneview | rs182614164 |
| scholar | rs182614164 |
| rs182614164 | |
| pharmgkb | rs182614164 |
| gwascentral | rs182614164 |
| openSNP | rs182614164 |
| 23andMe | rs182614164 |
| SNPshot | rs182614164 |
| SNPdbe | rs182614164 |
| MSV3d | rs182614164 |
| GWAS Ctlg | rs182614164 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs182614164(G;G) |
| Alt | rs182614164(G;G) |
| Reference | Rs182614164(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.103225061C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000119009.2, |
