rs763492075
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs763492075(C;C) |
| Make rs763492075(C;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 12007126 |
| Gene | MFN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs763492075 |
| dbSNP (classic) | rs763492075 |
| ClinGen | rs763492075 |
| ebi | rs763492075 |
| HLI | rs763492075 |
| Exac | rs763492075 |
| Gnomad | rs763492075 |
| Varsome | rs763492075 |
| LitVar | rs763492075 |
| Map | rs763492075 |
| PheGenI | rs763492075 |
| Biobank | rs763492075 |
| 1000 genomes | rs763492075 |
| hgdp | rs763492075 |
| ensembl | rs763492075 |
| geneview | rs763492075 |
| scholar | rs763492075 |
| rs763492075 | |
| pharmgkb | rs763492075 |
| gwascentral | rs763492075 |
| openSNP | rs763492075 |
| 23andMe | rs763492075 |
| SNPshot | rs763492075 |
| SNPdbe | rs763492075 |
| MSV3d | rs763492075 |
| GWAS Ctlg | rs763492075 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs763492075(A;A) rs763492075(C;C) rs763492075(T;T) |
| Alt | rs763492075(A;A) rs763492075(C;C) rs763492075(T;T) |
| Reference | Rs763492075(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | MFN2 |
| CLNDBN | Charcot-Marie-Tooth disease, type 2 Charcot-Marie-Tooth disease, type 2A2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.12067183G>A; NC_000001.10:g.12067183G>C |
| CLNSRC | |
| CLNACC | RCV000233537.1, RCV000235085.1, |
