rs201583907
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs201583907(A;A) |
| Make rs201583907(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 156137191 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201583907 |
| dbSNP (classic) | rs201583907 |
| ClinGen | rs201583907 |
| ebi | rs201583907 |
| HLI | rs201583907 |
| Exac | rs201583907 |
| Gnomad | rs201583907 |
| Varsome | rs201583907 |
| LitVar | rs201583907 |
| Map | rs201583907 |
| PheGenI | rs201583907 |
| Biobank | rs201583907 |
| 1000 genomes | rs201583907 |
| hgdp | rs201583907 |
| ensembl | rs201583907 |
| geneview | rs201583907 |
| scholar | rs201583907 |
| rs201583907 | |
| pharmgkb | rs201583907 |
| gwascentral | rs201583907 |
| openSNP | rs201583907 |
| 23andMe | rs201583907 |
| SNPshot | rs201583907 |
| SNPdbe | rs201583907 |
| MSV3d | rs201583907 |
| GWAS Ctlg | rs201583907 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201583907(A;A) rs201583907(C;C) |
| Alt | rs201583907(A;A) rs201583907(C;C) |
| Reference | Rs201583907(G;G) |
| Significance | Pathogenic |
| Disease | not specified not provided Cardiovascular phenotype Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | LMNA |
| CLNDBN | not specified not provided Cardiovascular phenotype Charcot-Marie-Tooth disease, type 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156106982G>A; NC_000001.10:g.156106982G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000041324.3, RCV000057323.4, RCV000245950.1, RCV000474372.1, RCV000182372.1, |
