rs769022521
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs769022521(-;T) |
| Make rs769022521(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 43918025 |
| Gene | LRPPRC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs769022521 |
| dbSNP (classic) | rs769022521 |
| ClinGen | rs769022521 |
| ebi | rs769022521 |
| HLI | rs769022521 |
| Exac | rs769022521 |
| Gnomad | rs769022521 |
| Varsome | rs769022521 |
| LitVar | rs769022521 |
| Map | rs769022521 |
| PheGenI | rs769022521 |
| Biobank | rs769022521 |
| 1000 genomes | rs769022521 |
| hgdp | rs769022521 |
| ensembl | rs769022521 |
| geneview | rs769022521 |
| scholar | rs769022521 |
| rs769022521 | |
| pharmgkb | rs769022521 |
| gwascentral | rs769022521 |
| openSNP | rs769022521 |
| 23andMe | rs769022521 |
| SNPshot | rs769022521 |
| SNPdbe | rs769022521 |
| MSV3d | rs769022521 |
| GWAS Ctlg | rs769022521 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs769022521(T;T) |
| Alt | rs769022521(T;T) |
| Reference | Rs769022521(-;-) |
| Significance | Pathogenic |
| Disease | Leigh syndrome |
| Variation | info |
| Gene | LRPPRC |
| CLNDBN | Leigh syndrome, French Canadian type |
| Reversed | 0 |
| HGVS | NC_000002.11:g.44145165dupT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000202391.2, |
