rs121912496
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121912496(C;T) |
| Make rs121912496(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156134910 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912496 |
| dbSNP (classic) | rs121912496 |
| ClinGen | rs121912496 |
| ebi | rs121912496 |
| HLI | rs121912496 |
| Exac | rs121912496 |
| Gnomad | rs121912496 |
| Varsome | rs121912496 |
| LitVar | rs121912496 |
| Map | rs121912496 |
| PheGenI | rs121912496 |
| Biobank | rs121912496 |
| 1000 genomes | rs121912496 |
| hgdp | rs121912496 |
| ensembl | rs121912496 |
| geneview | rs121912496 |
| scholar | rs121912496 |
| rs121912496 | |
| pharmgkb | rs121912496 |
| gwascentral | rs121912496 |
| openSNP | rs121912496 |
| 23andMe | rs121912496 |
| SNPshot | rs121912496 |
| SNPdbe | rs121912496 |
| MSV3d | rs121912496 |
| GWAS Ctlg | rs121912496 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121912496(G;G) rs121912496(T;T) |
| Alt | rs121912496(G;G) rs121912496(T;T) |
| Reference | Rs121912496(C;C) |
| Significance | Pathogenic |
| Disease | not specified Congenital muscular dystrophy not provided Benign scapuloperoneal muscular dystrophy with cardiomyopathy |
| Variation | info |
| Gene | LMNA |
| CLNDBN | not specified Congenital muscular dystrophy, LMNA-related not provided Benign scapuloperoneal muscular dystrophy with cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156104701C>G; NC_000001.10:g.156104701C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000041362.3, RCV000015621.27, RCV000057452.2, RCV000201142.1, |
