rs397515508
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs397515508(A;A) |
| Make rs397515508(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 3700 |
| Gene | ND1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397515508 |
| dbSNP (classic) | rs397515508 |
| ClinGen | rs397515508 |
| ebi | rs397515508 |
| HLI | rs397515508 |
| Exac | rs397515508 |
| Gnomad | rs397515508 |
| Varsome | rs397515508 |
| LitVar | rs397515508 |
| Map | rs397515508 |
| PheGenI | rs397515508 |
| Biobank | rs397515508 |
| 1000 genomes | rs397515508 |
| hgdp | rs397515508 |
| ensembl | rs397515508 |
| geneview | rs397515508 |
| scholar | rs397515508 |
| rs397515508 | |
| pharmgkb | rs397515508 |
| gwascentral | rs397515508 |
| openSNP | rs397515508 |
| 23andMe | rs397515508 |
| SNPshot | rs397515508 |
| SNPdbe | rs397515508 |
| MSV3d | rs397515508 |
| GWAS Ctlg | rs397515508 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397515508(A;A) |
| Alt | rs397515508(A;A) |
| Reference | Rs397515508(G;G) |
| Significance | Pathogenic |
| Disease | Leber's optic atrophy Abnormal electroretinogram Optic neuropathy Visual loss |
| Variation | info |
| Gene | ND1 |
| CLNDBN | Leber's optic atrophy Abnormal electroretinogram Optic neuropathy Visual loss |
| Reversed | 0 |
| HGVS | NC_012920.1:m.3700G>A |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000055708.1, RCV000415448.1, |
