rs267607551
From SNPedia
| Merged into | rs267607540 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AGA;AGA) | 0 | common in clinvar |
| Make rs267607551(-;-) |
| Make rs267607551(-;GAA) |
| Make rs267607551(GAA;GAA) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 156134513 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607551 |
| dbSNP (classic) | rs267607551 |
| ClinGen | rs267607551 |
| ebi | rs267607551 |
| HLI | rs267607551 |
| Exac | rs267607551 |
| Gnomad | rs267607551 |
| Varsome | rs267607551 |
| LitVar | rs267607551 |
| Map | rs267607551 |
| PheGenI | rs267607551 |
| Biobank | rs267607551 |
| 1000 genomes | rs267607551 |
| hgdp | rs267607551 |
| ensembl | rs267607551 |
| geneview | rs267607551 |
| scholar | rs267607551 |
| rs267607551 | |
| pharmgkb | rs267607551 |
| gwascentral | rs267607551 |
| openSNP | rs267607551 |
| 23andMe | rs267607551 |
| SNPshot | rs267607551 |
| SNPdbe | rs267607551 |
| MSV3d | rs267607551 |
| GWAS Ctlg | rs267607551 |
| Status | Merged into rs267607540 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs267607551(AGA;AGA) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy not provided |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Limb-girdle muscular dystrophy, type 1B not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156104304_156104306delGAA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015588.26, RCV000057433.2, |
