rs199474663
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs199474663(A;G) |
| Make rs199474663(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 3260 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199474663 |
| dbSNP (classic) | rs199474663 |
| ClinGen | rs199474663 |
| ebi | rs199474663 |
| HLI | rs199474663 |
| Exac | rs199474663 |
| Gnomad | rs199474663 |
| Varsome | rs199474663 |
| LitVar | rs199474663 |
| Map | rs199474663 |
| PheGenI | rs199474663 |
| Biobank | rs199474663 |
| 1000 genomes | rs199474663 |
| hgdp | rs199474663 |
| ensembl | rs199474663 |
| geneview | rs199474663 |
| scholar | rs199474663 |
| rs199474663 | |
| pharmgkb | rs199474663 |
| gwascentral | rs199474663 |
| openSNP | rs199474663 |
| 23andMe | rs199474663 |
| SNPshot | rs199474663 |
| SNPdbe | rs199474663 |
| MSV3d | rs199474663 |
| GWAS Ctlg | rs199474663 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199474663(G;G) |
| Alt | rs199474663(G;G) |
| Reference | Rs199474663(A;A) |
| Significance | Pathogenic |
| Disease | Cardiomyopathy with or without skeletal myopathy |
| Variation | info |
| Gene | |
| CLNDBN | Cardiomyopathy with or without skeletal myopathy |
| Reversed | 0 |
| HGVS | NC_012920.1:m.3260A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010219.2, |
