rs60580541
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs60580541(C;T) |
| Make rs60580541(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156137210 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60580541 |
| dbSNP (classic) | rs60580541 |
| ClinGen | rs60580541 |
| ebi | rs60580541 |
| HLI | rs60580541 |
| Exac | rs60580541 |
| Gnomad | rs60580541 |
| Varsome | rs60580541 |
| LitVar | rs60580541 |
| Map | rs60580541 |
| PheGenI | rs60580541 |
| Biobank | rs60580541 |
| 1000 genomes | rs60580541 |
| hgdp | rs60580541 |
| ensembl | rs60580541 |
| geneview | rs60580541 |
| scholar | rs60580541 |
| rs60580541 | |
| pharmgkb | rs60580541 |
| gwascentral | rs60580541 |
| openSNP | rs60580541 |
| 23andMe | rs60580541 |
| SNPshot | rs60580541 |
| SNPdbe | rs60580541 |
| MSV3d | rs60580541 |
| GWAS Ctlg | rs60580541 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs60580541(T;T) |
| Alt | rs60580541(T;T) |
| Reference | Rs60580541(C;C) |
| Significance | Pathogenic |
| Disease | Mandibuloacral dysostosis not provided |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Mandibuloacral dysostosis not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156107001C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015608.25, RCV000057332.1, |
