rs199474701
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199474701(A;A) |
| Make rs199474701(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 15967 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199474701 |
| dbSNP (classic) | rs199474701 |
| ClinGen | rs199474701 |
| ebi | rs199474701 |
| HLI | rs199474701 |
| Exac | rs199474701 |
| Gnomad | rs199474701 |
| Varsome | rs199474701 |
| LitVar | rs199474701 |
| Map | rs199474701 |
| PheGenI | rs199474701 |
| Biobank | rs199474701 |
| 1000 genomes | rs199474701 |
| hgdp | rs199474701 |
| ensembl | rs199474701 |
| geneview | rs199474701 |
| scholar | rs199474701 |
| rs199474701 | |
| pharmgkb | rs199474701 |
| gwascentral | rs199474701 |
| openSNP | rs199474701 |
| 23andMe | rs199474701 |
| SNPshot | rs199474701 |
| SNPdbe | rs199474701 |
| MSV3d | rs199474701 |
| GWAS Ctlg | rs199474701 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199474701(A;A) |
| Alt | rs199474701(A;A) |
| Reference | Rs199474701(G;G) |
| Significance | Pathogenic |
| Disease | MERFF syndrome Myoclonus with epilepsy with ragged red fibers |
| Variation | info |
| Gene | |
| CLNDBN | MERFF syndrome Myoclonus with epilepsy with ragged red fibers |
| Reversed | 0 |
| HGVS | NC_012920.1:m.15967G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010185.2, RCV000192058.1, |
