rs28933091
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs28933091(C;G) |
| Make rs28933091(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156134474 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933091 |
| dbSNP (classic) | rs28933091 |
| ClinGen | rs28933091 |
| ebi | rs28933091 |
| HLI | rs28933091 |
| Exac | rs28933091 |
| Gnomad | rs28933091 |
| Varsome | rs28933091 |
| LitVar | rs28933091 |
| Map | rs28933091 |
| PheGenI | rs28933091 |
| Biobank | rs28933091 |
| 1000 genomes | rs28933091 |
| hgdp | rs28933091 |
| ensembl | rs28933091 |
| geneview | rs28933091 |
| scholar | rs28933091 |
| rs28933091 | |
| pharmgkb | rs28933091 |
| gwascentral | rs28933091 |
| openSNP | rs28933091 |
| 23andMe | rs28933091 |
| SNPshot | rs28933091 |
| SNPdbe | rs28933091 |
| MSV3d | rs28933091 |
| GWAS Ctlg | rs28933091 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28933091(A;A) rs28933091(G;G) |
| Alt | rs28933091(A;A) rs28933091(G;G) |
| Reference | Rs28933091(C;C) |
| Significance | Pathogenic |
| Disease | not provided Dilated cardiomyopathy 1A Primary dilated cardiomyopathy |
| Variation | info |
| Gene | LMNA |
| CLNDBN | not provided Dilated cardiomyopathy 1A Primary dilated cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156104265C>A; NC_000001.10:g.156104265C>G |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000057424.1, RCV000015572.27, RCV000057425.3, RCV000211789.1, |
[PMID 10580070] Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
