rs774843953
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs774843953(C;C) |
| Make rs774843953(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 7 |
| Position | 143332755 |
| Gene | CLCN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs774843953 |
| dbSNP (classic) | rs774843953 |
| ClinGen | rs774843953 |
| ebi | rs774843953 |
| HLI | rs774843953 |
| Exac | rs774843953 |
| Gnomad | rs774843953 |
| Varsome | rs774843953 |
| LitVar | rs774843953 |
| Map | rs774843953 |
| PheGenI | rs774843953 |
| Biobank | rs774843953 |
| 1000 genomes | rs774843953 |
| hgdp | rs774843953 |
| ensembl | rs774843953 |
| geneview | rs774843953 |
| scholar | rs774843953 |
| rs774843953 | |
| pharmgkb | rs774843953 |
| gwascentral | rs774843953 |
| openSNP | rs774843953 |
| 23andMe | rs774843953 |
| SNPshot | rs774843953 |
| SNPdbe | rs774843953 |
| MSV3d | rs774843953 |
| GWAS Ctlg | rs774843953 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs774843953(C;C) |
| Alt | rs774843953(C;C) |
| Reference | Rs774843953(T;T) |
| Significance | Pathogenic |
| Disease | Myotonia congenita |
| Variation | info |
| Gene | CLCN1 |
| CLNDBN | Myotonia congenita |
| Reversed | 0 |
| HGVS | NC_000007.13:g.143029848T>C |
| CLNSRC | |
| CLNACC | RCV000193137.1, |
