rs373747090
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs373747090(A;T) |
| Make rs373747090(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 232534290 |
| Gene | CHRND |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373747090 |
| dbSNP (classic) | rs373747090 |
| ClinGen | rs373747090 |
| ebi | rs373747090 |
| HLI | rs373747090 |
| Exac | rs373747090 |
| Gnomad | rs373747090 |
| Varsome | rs373747090 |
| LitVar | rs373747090 |
| Map | rs373747090 |
| PheGenI | rs373747090 |
| Biobank | rs373747090 |
| 1000 genomes | rs373747090 |
| hgdp | rs373747090 |
| ensembl | rs373747090 |
| geneview | rs373747090 |
| scholar | rs373747090 |
| rs373747090 | |
| pharmgkb | rs373747090 |
| gwascentral | rs373747090 |
| openSNP | rs373747090 |
| 23andMe | rs373747090 |
| SNPshot | rs373747090 |
| SNPdbe | rs373747090 |
| MSV3d | rs373747090 |
| GWAS Ctlg | rs373747090 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373747090(T;T) |
| Alt | rs373747090(T;T) |
| Reference | Rs373747090(A;A) |
| Significance | Pathogenic |
| Disease | Congenital myasthenic syndrome 1B |
| Variation | info |
| Gene | CHRND |
| CLNDBN | Congenital myasthenic syndrome 1B, fast-channel |
| Reversed | 0 |
| HGVS | NC_000002.11:g.233399000A>G |
| CLNSRC | |
| CLNACC | RCV000191950.1, |
