rs113436208
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs113436208(C;C) |
| Make rs113436208(C;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 156138758 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113436208 |
| dbSNP (classic) | rs113436208 |
| ClinGen | rs113436208 |
| ebi | rs113436208 |
| HLI | rs113436208 |
| Exac | rs113436208 |
| Gnomad | rs113436208 |
| Varsome | rs113436208 |
| LitVar | rs113436208 |
| Map | rs113436208 |
| PheGenI | rs113436208 |
| Biobank | rs113436208 |
| 1000 genomes | rs113436208 |
| hgdp | rs113436208 |
| ensembl | rs113436208 |
| geneview | rs113436208 |
| scholar | rs113436208 |
| rs113436208 | |
| pharmgkb | rs113436208 |
| gwascentral | rs113436208 |
| openSNP | rs113436208 |
| 23andMe | rs113436208 |
| SNPshot | rs113436208 |
| SNPdbe | rs113436208 |
| MSV3d | rs113436208 |
| GWAS Ctlg | rs113436208 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs113436208(A;A) rs113436208(C;C) |
| Alt | rs113436208(A;A) rs113436208(C;C) |
| Reference | Rs113436208(G;G) |
| Significance | Pathogenic |
| Disease | Lethal tight skin contracture syndrome Hutchinson-Gilford syndrome not provided |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Lethal tight skin contracture syndrome Hutchinson-Gilford syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156108549G>A; NC_000001.10:g.156108549G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015606.27, RCV000015607.28, RCV000057377.1, RCV000192016.1, |
