rs200855215
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs200855215(A;G) |
| Make rs200855215(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 13637 |
| Gene | ND5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200855215 |
| dbSNP (classic) | rs200855215 |
| ClinGen | rs200855215 |
| ebi | rs200855215 |
| HLI | rs200855215 |
| Exac | rs200855215 |
| Gnomad | rs200855215 |
| Varsome | rs200855215 |
| LitVar | rs200855215 |
| Map | rs200855215 |
| PheGenI | rs200855215 |
| Biobank | rs200855215 |
| 1000 genomes | rs200855215 |
| hgdp | rs200855215 |
| ensembl | rs200855215 |
| geneview | rs200855215 |
| scholar | rs200855215 |
| rs200855215 | |
| pharmgkb | rs200855215 |
| gwascentral | rs200855215 |
| openSNP | rs200855215 |
| 23andMe | rs200855215 |
| SNPshot | rs200855215 |
| SNPdbe | rs200855215 |
| MSV3d | rs200855215 |
| GWAS Ctlg | rs200855215 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200855215(G;G) |
| Alt | rs200855215(G;G) |
| Reference | Rs200855215(A;A) |
| Significance | Pathogenic |
| Disease | Leber's optic atrophy |
| Variation | info |
| Gene | ND5 |
| CLNDBN | Leber's optic atrophy |
| Reversed | 0 |
| HGVS | NC_012920.1:m.13637A>G |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000055699.1, |
