rs59885338
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs59885338(C;T) |
| Make rs59885338(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156135268 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs59885338 |
| dbSNP (classic) | rs59885338 |
| ClinGen | rs59885338 |
| ebi | rs59885338 |
| HLI | rs59885338 |
| Exac | rs59885338 |
| Gnomad | rs59885338 |
| Varsome | rs59885338 |
| LitVar | rs59885338 |
| Map | rs59885338 |
| PheGenI | rs59885338 |
| Biobank | rs59885338 |
| 1000 genomes | rs59885338 |
| hgdp | rs59885338 |
| ensembl | rs59885338 |
| geneview | rs59885338 |
| scholar | rs59885338 |
| rs59885338 | |
| pharmgkb | rs59885338 |
| gwascentral | rs59885338 |
| openSNP | rs59885338 |
| 23andMe | rs59885338 |
| SNPshot | rs59885338 |
| SNPdbe | rs59885338 |
| MSV3d | rs59885338 |
| GWAS Ctlg | rs59885338 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs59885338(T;T) |
| Alt | rs59885338(T;T) |
| Reference | Rs59885338(C;C) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease type 2B1 not provided Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Charcot-Marie-Tooth disease type 2B1 not provided Charcot-Marie-Tooth disease |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156105059C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015590.24, RCV000057479.1, RCV000192238.1, |
