rs142191737
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs142191737(A;A) |
| Make rs142191737(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 156137679 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142191737 |
| dbSNP (classic) | rs142191737 |
| ClinGen | rs142191737 |
| ebi | rs142191737 |
| HLI | rs142191737 |
| Exac | rs142191737 |
| Gnomad | rs142191737 |
| Varsome | rs142191737 |
| LitVar | rs142191737 |
| Map | rs142191737 |
| PheGenI | rs142191737 |
| Biobank | rs142191737 |
| 1000 genomes | rs142191737 |
| hgdp | rs142191737 |
| ensembl | rs142191737 |
| geneview | rs142191737 |
| scholar | rs142191737 |
| rs142191737 | |
| pharmgkb | rs142191737 |
| gwascentral | rs142191737 |
| openSNP | rs142191737 |
| 23andMe | rs142191737 |
| SNPshot | rs142191737 |
| SNPdbe | rs142191737 |
| MSV3d | rs142191737 |
| GWAS Ctlg | rs142191737 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142191737(A;A) |
| Alt | rs142191737(A;A) |
| Reference | Rs142191737(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified Peripheral neuropathy Charcot-Marie-Tooth disease Dilated cardiomyopathy 1S |
| Variation | info |
| Gene | LMNA |
| CLNDBN | not specified Peripheral neuropathy Charcot-Marie-Tooth disease, type 2 Dilated cardiomyopathy 1S |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156107470G>A |
| CLNSRC | |
| CLNACC | RCV000150955.3, RCV000449630.1, RCV000468904.1, RCV000491650.1, |
