rs28933090
From SNPedia
					| Orientation | plus | 
| Stabilized | plus | 
| Geno | Mag | Summary | 
|---|---|---|
| (G;T) | 6.2 | Dilated cardiomyopathy | 
| (T;T) | 0 | common in clinvar | 
| Make rs28933090(G;G) | 
| Reference | GRCh38 38.1/141 | 
| Chromosome | 1 | 
| Position | 156115172 | 
| Gene | LMNA | 
| is a | snp | 
| is | mentioned by | 
| dbSNP | rs28933090 | 
| dbSNP (classic) | rs28933090 | 
| ClinGen | rs28933090 | 
| ebi | rs28933090 | 
| HLI | rs28933090 | 
| Exac | rs28933090 | 
| Gnomad | rs28933090 | 
| Varsome | rs28933090 | 
| LitVar | rs28933090 | 
| Map | rs28933090 | 
| PheGenI | rs28933090 | 
| Biobank | rs28933090 | 
| 1000 genomes | rs28933090 | 
| hgdp | rs28933090 | 
| ensembl | rs28933090 | 
| geneview | rs28933090 | 
| scholar | rs28933090 | 
| rs28933090 | |
| pharmgkb | rs28933090 | 
| gwascentral | rs28933090 | 
| openSNP | rs28933090 | 
| 23andMe | rs28933090 | 
| SNPshot | rs28933090 | 
| SNPdbe | rs28933090 | 
| MSV3d | rs28933090 | 
| GWAS Ctlg | rs28933090 | 
| Max Magnitude | 6.2 | 
| ? | (G;G) (G;T) (T;T) | 28 | 
|---|---|---|
| 
 
 
  | ||
| ClinVar | |
|---|---|
| Risk | rs28933090(A;A) rs28933090(G;G) | 
| Alt | rs28933090(A;A) rs28933090(G;G) | 
| Reference | Rs28933090(T;T) | 
| Significance | Pathogenic | 
| Disease | Charcot-Marie-Tooth disease Dilated cardiomyopathy 1A not provided | 
| Variation | info | 
| Gene | LMNA | 
| CLNDBN | Charcot-Marie-Tooth disease, type 2 Dilated cardiomyopathy 1A not provided | 
| Reversed | 0 | 
| HGVS | NC_000001.10:g.156084963T>A; NC_000001.10:g.156084963T>G | 
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) | 
| CLNACC | RCV000225805.1, RCV000015568.25, RCV000057381.1, | 
