rs58932704
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs58932704(C;T) |
| Make rs58932704(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156136413 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58932704 |
| dbSNP (classic) | rs58932704 |
| ClinGen | rs58932704 |
| ebi | rs58932704 |
| HLI | rs58932704 |
| Exac | rs58932704 |
| Gnomad | rs58932704 |
| Varsome | rs58932704 |
| LitVar | rs58932704 |
| Map | rs58932704 |
| PheGenI | rs58932704 |
| Biobank | rs58932704 |
| 1000 genomes | rs58932704 |
| hgdp | rs58932704 |
| ensembl | rs58932704 |
| geneview | rs58932704 |
| scholar | rs58932704 |
| rs58932704 | |
| pharmgkb | rs58932704 |
| gwascentral | rs58932704 |
| openSNP | rs58932704 |
| 23andMe | rs58932704 |
| SNPshot | rs58932704 |
| SNPdbe | rs58932704 |
| MSV3d | rs58932704 |
| GWAS Ctlg | rs58932704 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58932704(T;T) |
| Alt | rs58932704(T;T) |
| Reference | Rs58932704(C;C) |
| Significance | Other |
| Disease | Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided Limb-girdle muscular dystrophy Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided Limb-girdle muscular dystrophy, type 1B Charcot-Marie-Tooth disease, type 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156106204C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015565.27, RCV000057273.3, RCV000230383.2, RCV000472112.1, |
