rs193302933
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs193302933(C;C) |
| Make rs193302933(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 10663 |
| Gene | ND4L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193302933 |
| dbSNP (classic) | rs193302933 |
| ClinGen | rs193302933 |
| ebi | rs193302933 |
| HLI | rs193302933 |
| Exac | rs193302933 |
| Gnomad | rs193302933 |
| Varsome | rs193302933 |
| LitVar | rs193302933 |
| Map | rs193302933 |
| PheGenI | rs193302933 |
| Biobank | rs193302933 |
| 1000 genomes | rs193302933 |
| hgdp | rs193302933 |
| ensembl | rs193302933 |
| geneview | rs193302933 |
| scholar | rs193302933 |
| rs193302933 | |
| pharmgkb | rs193302933 |
| gwascentral | rs193302933 |
| openSNP | rs193302933 |
| 23andMe | rs193302933 |
| SNPshot | rs193302933 |
| SNPdbe | rs193302933 |
| MSV3d | rs193302933 |
| GWAS Ctlg | rs193302933 |
| Merged from | Rs199476114, Rs2854121 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193302933(C;C) |
| Alt | rs193302933(C;C) |
| Reference | Rs193302933(T;T) |
| Significance | Pathogenic |
| Disease | Leber's optic atrophy |
| Variation | info |
| Gene | ND4L |
| CLNDBN | Leber's optic atrophy |
| Reversed | 0 |
| HGVS | NC_012920.1:m.10663T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010353.3, |
