rs60652225
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs60652225(G;G) |
| Make rs60652225(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156130679 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60652225 |
| dbSNP (classic) | rs60652225 |
| ClinGen | rs60652225 |
| ebi | rs60652225 |
| HLI | rs60652225 |
| Exac | rs60652225 |
| Gnomad | rs60652225 |
| Varsome | rs60652225 |
| LitVar | rs60652225 |
| Map | rs60652225 |
| PheGenI | rs60652225 |
| Biobank | rs60652225 |
| 1000 genomes | rs60652225 |
| hgdp | rs60652225 |
| ensembl | rs60652225 |
| geneview | rs60652225 |
| scholar | rs60652225 |
| rs60652225 | |
| pharmgkb | rs60652225 |
| gwascentral | rs60652225 |
| openSNP | rs60652225 |
| 23andMe | rs60652225 |
| SNPshot | rs60652225 |
| SNPdbe | rs60652225 |
| MSV3d | rs60652225 |
| GWAS Ctlg | rs60652225 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs60652225(C;C) rs60652225(G;G) |
| Alt | rs60652225(C;C) rs60652225(G;G) |
| Reference | Rs60652225(T;T) |
| Significance | Pathogenic |
| Disease | not provided Hutchinson-Gilford progeria syndrome |
| Variation | info |
| Gene | LMNA |
| CLNDBN | not provided Hutchinson-Gilford progeria syndrome, childhood-onset |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156100470T>C; NC_000001.10:g.156100470T>G |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000057402.1, RCV000015601.23, RCV000057403.1, |
