rs57920071
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs57920071(C;T) |
| Make rs57920071(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156136984 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs57920071 |
| dbSNP (classic) | rs57920071 |
| ClinGen | rs57920071 |
| ebi | rs57920071 |
| HLI | rs57920071 |
| Exac | rs57920071 |
| Gnomad | rs57920071 |
| Varsome | rs57920071 |
| LitVar | rs57920071 |
| Map | rs57920071 |
| PheGenI | rs57920071 |
| Biobank | rs57920071 |
| 1000 genomes | rs57920071 |
| hgdp | rs57920071 |
| ensembl | rs57920071 |
| geneview | rs57920071 |
| scholar | rs57920071 |
| rs57920071 | |
| pharmgkb | rs57920071 |
| gwascentral | rs57920071 |
| openSNP | rs57920071 |
| 23andMe | rs57920071 |
| SNPshot | rs57920071 |
| SNPdbe | rs57920071 |
| MSV3d | rs57920071 |
| GWAS Ctlg | rs57920071 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs57920071(T;T) |
| Alt | rs57920071(T;T) |
| Reference | Rs57920071(C;C) |
| Significance | Pathogenic |
| Disease | Familial partial lipodystrophy 2 not provided |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Familial partial lipodystrophy 2 not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156106775C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015579.28, RCV000057298.1, |
