rs121913584
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.1 | Charcot-Marie-Tooth Disease, type 1 |
| (C;C) | 0 | common in clinvar |
| (C;G) | 6.1 | Charcot-Marie-Tooth Disease, type 1 |
| Make rs121913584(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 161306886 |
| Gene | MPZ |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913584 |
| dbSNP (classic) | rs121913584 |
| ClinGen | rs121913584 |
| ebi | rs121913584 |
| HLI | rs121913584 |
| Exac | rs121913584 |
| Gnomad | rs121913584 |
| Varsome | rs121913584 |
| LitVar | rs121913584 |
| Map | rs121913584 |
| PheGenI | rs121913584 |
| Biobank | rs121913584 |
| 1000 genomes | rs121913584 |
| hgdp | rs121913584 |
| ensembl | rs121913584 |
| geneview | rs121913584 |
| scholar | rs121913584 |
| rs121913584 | |
| pharmgkb | rs121913584 |
| gwascentral | rs121913584 |
| openSNP | rs121913584 |
| 23andMe | rs121913584 |
| SNPshot | rs121913584 |
| SNPdbe | rs121913584 |
| MSV3d | rs121913584 |
| GWAS Ctlg | rs121913584 |
| Max Magnitude | 6.1 |
aka c.270C>G (p.Asp90Glu or D90E) and also c.270C>A (p.Asp90Glu); both are likely to be pathogenic for Charcot-Marie-Tooth disease type 1B, a dominantly inherited disorder, according to ClinVar.
| ClinVar | |
|---|---|
| Risk | rs121913584(A;A) rs121913584(T;T) |
| Alt | rs121913584(A;A) rs121913584(T;T) |
| Reference | Rs121913584(C;C) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | MPZ |
| CLNDBN | Charcot-Marie-Tooth disease, demyelinating, type 1b |
| Reversed | 1 |
| HGVS | NC_000001.10:g.161276676G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015230.21, |
