rs121434591
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121434591(C;G) |
| Make rs121434591(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 139307669 |
| Gene | MATR3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434591 |
| dbSNP (classic) | rs121434591 |
| ClinGen | rs121434591 |
| ebi | rs121434591 |
| HLI | rs121434591 |
| Exac | rs121434591 |
| Gnomad | rs121434591 |
| Varsome | rs121434591 |
| LitVar | rs121434591 |
| Map | rs121434591 |
| PheGenI | rs121434591 |
| Biobank | rs121434591 |
| 1000 genomes | rs121434591 |
| hgdp | rs121434591 |
| ensembl | rs121434591 |
| geneview | rs121434591 |
| scholar | rs121434591 |
| rs121434591 | |
| pharmgkb | rs121434591 |
| gwascentral | rs121434591 |
| openSNP | rs121434591 |
| 23andMe | rs121434591 |
| SNPshot | rs121434591 |
| SNPdbe | rs121434591 |
| MSV3d | rs121434591 |
| GWAS Ctlg | rs121434591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121434591(G;G) |
| Alt | rs121434591(G;G) |
| Reference | Rs121434591(C;C) |
| Significance | Other |
| Disease | Myopathy |
| Variation | info |
| Gene | MATR3 |
| CLNDBN | Myopathy, distal, 2 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.138643358C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000015039.30, |
[PMID 19344878
] Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
