rs373698346
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs373698346(A;G) |
| Make rs373698346(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 10275444 |
| Gene | KIF1B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373698346 |
| dbSNP (classic) | rs373698346 |
| ClinGen | rs373698346 |
| ebi | rs373698346 |
| HLI | rs373698346 |
| Exac | rs373698346 |
| Gnomad | rs373698346 |
| Varsome | rs373698346 |
| LitVar | rs373698346 |
| Map | rs373698346 |
| PheGenI | rs373698346 |
| Biobank | rs373698346 |
| 1000 genomes | rs373698346 |
| hgdp | rs373698346 |
| ensembl | rs373698346 |
| geneview | rs373698346 |
| scholar | rs373698346 |
| rs373698346 | |
| pharmgkb | rs373698346 |
| gwascentral | rs373698346 |
| openSNP | rs373698346 |
| 23andMe | rs373698346 |
| SNPshot | rs373698346 |
| SNPdbe | rs373698346 |
| MSV3d | rs373698346 |
| GWAS Ctlg | rs373698346 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373698346(G;G) |
| Alt | rs373698346(G;G) |
| Reference | Rs373698346(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | KIF1B |
| CLNDBN | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.10335502A>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000144876.1, RCV000167979.1, |
