rs121913592
From SNPedia
| Merged into | rs121913585 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121913592(C;T) |
| Make rs121913592(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 161307304 |
| Gene | MPZ |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913592 |
| dbSNP (classic) | rs121913592 |
| ClinGen | rs121913592 |
| ebi | rs121913592 |
| HLI | rs121913592 |
| Exac | rs121913592 |
| Gnomad | rs121913592 |
| Varsome | rs121913592 |
| LitVar | rs121913592 |
| Map | rs121913592 |
| PheGenI | rs121913592 |
| Biobank | rs121913592 |
| 1000 genomes | rs121913592 |
| hgdp | rs121913592 |
| ensembl | rs121913592 |
| geneview | rs121913592 |
| scholar | rs121913592 |
| rs121913592 | |
| pharmgkb | rs121913592 |
| gwascentral | rs121913592 |
| openSNP | rs121913592 |
| 23andMe | rs121913592 |
| SNPshot | rs121913592 |
| SNPdbe | rs121913592 |
| MSV3d | rs121913592 |
| GWAS Ctlg | rs121913592 |
| Status | Merged into rs121913585 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121913592(T;T) |
| Alt | rs121913592(T;T) |
| Reference | Rs121913592(C;C) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | MPZ |
| CLNDBN | Charcot-Marie-Tooth disease, type IB |
| Reversed | 1 |
| HGVS | NC_000001.10:g.161277094G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | SCV000035499.1, |
