rs121909093
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | DNM2-related intermediate Charcot-Marie-Tooth neuropathy |
| (G;G) | 0 | common in clinvar |
| Make rs121909093(G;T) |
| Make rs121909093(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 10812315 |
| Gene | DNM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909093 |
| dbSNP (classic) | rs121909093 |
| ClinGen | rs121909093 |
| ebi | rs121909093 |
| HLI | rs121909093 |
| Exac | rs121909093 |
| Gnomad | rs121909093 |
| Varsome | rs121909093 |
| LitVar | rs121909093 |
| Map | rs121909093 |
| PheGenI | rs121909093 |
| Biobank | rs121909093 |
| 1000 genomes | rs121909093 |
| hgdp | rs121909093 |
| ensembl | rs121909093 |
| geneview | rs121909093 |
| scholar | rs121909093 |
| rs121909093 | |
| pharmgkb | rs121909093 |
| gwascentral | rs121909093 |
| openSNP | rs121909093 |
| 23andMe | rs121909093 |
| SNPshot | rs121909093 |
| SNPdbe | rs121909093 |
| MSV3d | rs121909093 |
| GWAS Ctlg | rs121909093 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs121909093(A;A) rs121909093(T;T) |
| Alt | rs121909093(A;A) rs121909093(T;T) |
| Reference | Rs121909093(G;G) |
| Significance | Pathogenic |
| Disease | not specified Sensorimotor neuropathy Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | DNM2 |
| CLNDBN | not specified Sensorimotor neuropathy Charcot-Marie-Tooth disease, type 2M |
| Reversed | 0 |
| HGVS | NC_000019.9:g.10922991G>A; NC_000019.9:g.10922991G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000235229.2, RCV000415354.1, RCV000007706.4, |
