rs60934003
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 5 | |
| (C;T) | 6.4 | Emery-Dreifuss Muscular Dystrophy |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156137213 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60934003 |
| dbSNP (classic) | rs60934003 |
| ClinGen | rs60934003 |
| ebi | rs60934003 |
| HLI | rs60934003 |
| Exac | rs60934003 |
| Gnomad | rs60934003 |
| Varsome | rs60934003 |
| LitVar | rs60934003 |
| Map | rs60934003 |
| PheGenI | rs60934003 |
| Biobank | rs60934003 |
| 1000 genomes | rs60934003 |
| hgdp | rs60934003 |
| ensembl | rs60934003 |
| geneview | rs60934003 |
| scholar | rs60934003 |
| rs60934003 | |
| pharmgkb | rs60934003 |
| gwascentral | rs60934003 |
| openSNP | rs60934003 |
| 23andMe | rs60934003 |
| SNPshot | rs60934003 |
| SNPdbe | rs60934003 |
| MSV3d | rs60934003 |
| GWAS Ctlg | rs60934003 |
| Max Magnitude | 6.4 |
| ClinVar | |
|---|---|
| Risk | Rs60934003(C;C) |
| Alt | Rs60934003(C;C) |
| Reference | Rs60934003(T;T) |
| Significance | Pathogenic |
| Disease | Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156107004T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015571.25, RCV000057333.1, |
This is one of the mutations described at
