rs118203885
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | MELAS Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs118203885(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 583 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118203885 |
| dbSNP (classic) | rs118203885 |
| ClinGen | rs118203885 |
| ebi | rs118203885 |
| HLI | rs118203885 |
| Exac | rs118203885 |
| Gnomad | rs118203885 |
| Varsome | rs118203885 |
| LitVar | rs118203885 |
| Map | rs118203885 |
| PheGenI | rs118203885 |
| Biobank | rs118203885 |
| 1000 genomes | rs118203885 |
| hgdp | rs118203885 |
| ensembl | rs118203885 |
| geneview | rs118203885 |
| scholar | rs118203885 |
| rs118203885 | |
| pharmgkb | rs118203885 |
| gwascentral | rs118203885 |
| openSNP | rs118203885 |
| 23andMe | rs118203885 |
| SNPshot | rs118203885 |
| SNPdbe | rs118203885 |
| MSV3d | rs118203885 |
| GWAS Ctlg | rs118203885 |
| Max Magnitude | 4 |
m.583G>A
MELAS syndrome
See OMIM 590070.0001
| ClinVar | |
|---|---|
| Risk | Rs118203885(A;A) |
| Alt | Rs118203885(A;A) |
| Reference | Rs118203885(G;G) |
| Significance | Pathogenic |
| Disease | Juvenile myopathy |
| Variation | info |
| Gene | |
| CLNDBN | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke |
| Reversed | 0 |
| HGVS | NC_012920.1:m.583G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010186.2, |
