rs60310264
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs60310264(A;A) |
| Make rs60310264(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156130693 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60310264 |
| dbSNP (classic) | rs60310264 |
| ClinGen | rs60310264 |
| ebi | rs60310264 |
| HLI | rs60310264 |
| Exac | rs60310264 |
| Gnomad | rs60310264 |
| Varsome | rs60310264 |
| LitVar | rs60310264 |
| Map | rs60310264 |
| PheGenI | rs60310264 |
| Biobank | rs60310264 |
| 1000 genomes | rs60310264 |
| hgdp | rs60310264 |
| ensembl | rs60310264 |
| geneview | rs60310264 |
| scholar | rs60310264 |
| rs60310264 | |
| pharmgkb | rs60310264 |
| gwascentral | rs60310264 |
| openSNP | rs60310264 |
| 23andMe | rs60310264 |
| SNPshot | rs60310264 |
| SNPdbe | rs60310264 |
| MSV3d | rs60310264 |
| GWAS Ctlg | rs60310264 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs60310264(A;A) |
| Alt | rs60310264(A;A) |
| Reference | Rs60310264(G;G) |
| Significance | Pathogenic |
| Disease | Hutchinson-Gilford progeria syndrome not provided Hutchinson-Gilford syndrome |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Hutchinson-Gilford progeria syndrome, atypical not provided Hutchinson-Gilford syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156100484G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015596.22, RCV000057406.1, RCV000192009.1, |
