rs121918208
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121918208(G;T) |
| Make rs121918208(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 173831593 |
| Gene | DARS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918208 |
| dbSNP (classic) | rs121918208 |
| ClinGen | rs121918208 |
| ebi | rs121918208 |
| HLI | rs121918208 |
| Exac | rs121918208 |
| Gnomad | rs121918208 |
| Varsome | rs121918208 |
| LitVar | rs121918208 |
| Map | rs121918208 |
| PheGenI | rs121918208 |
| Biobank | rs121918208 |
| 1000 genomes | rs121918208 |
| hgdp | rs121918208 |
| ensembl | rs121918208 |
| geneview | rs121918208 |
| scholar | rs121918208 |
| rs121918208 | |
| pharmgkb | rs121918208 |
| gwascentral | rs121918208 |
| openSNP | rs121918208 |
| 23andMe | rs121918208 |
| SNPshot | rs121918208 |
| SNPdbe | rs121918208 |
| MSV3d | rs121918208 |
| GWAS Ctlg | rs121918208 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121918208(T;T) |
| Alt | rs121918208(T;T) |
| Reference | Rs121918208(G;G) |
| Significance | Pathogenic |
| Disease | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation |
| Variation | info |
| Gene | DARS2 |
| CLNDBN | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation |
| Reversed | 0 |
| HGVS | NC_000001.10:g.173800731G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001116.3, |
