rs863223953
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs863223953(C;T) |
| Make rs863223953(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 12 |
| Position | 32731362 |
| Gene | DNM1L, YARS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863223953 |
| dbSNP (classic) | rs863223953 |
| ClinGen | rs863223953 |
| ebi | rs863223953 |
| HLI | rs863223953 |
| Exac | rs863223953 |
| Gnomad | rs863223953 |
| Varsome | rs863223953 |
| LitVar | rs863223953 |
| Map | rs863223953 |
| PheGenI | rs863223953 |
| Biobank | rs863223953 |
| 1000 genomes | rs863223953 |
| hgdp | rs863223953 |
| ensembl | rs863223953 |
| geneview | rs863223953 |
| scholar | rs863223953 |
| rs863223953 | |
| pharmgkb | rs863223953 |
| gwascentral | rs863223953 |
| openSNP | rs863223953 |
| 23andMe | rs863223953 |
| SNPshot | rs863223953 |
| SNPdbe | rs863223953 |
| MSV3d | rs863223953 |
| GWAS Ctlg | rs863223953 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs863223953(T;T) |
| Alt | rs863223953(T;T) |
| Reference | Rs863223953(C;C) |
| Significance | Pathogenic |
| Disease | not provided Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
| Variation | info |
| Gene | YARS2 DNM1L |
| CLNDBN | not provided Encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.32884296C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000200196.2, RCV000239677.1, |
