rs80356704
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2.5 | carrier of a myotonia congenita allele; variable in degree |
| (T;T) | 6 | Myotonia congenita; quite variable in degree |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 143341938 |
| Gene | CLCN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356704 |
| dbSNP (classic) | rs80356704 |
| ClinGen | rs80356704 |
| ebi | rs80356704 |
| HLI | rs80356704 |
| Exac | rs80356704 |
| Gnomad | rs80356704 |
| Varsome | rs80356704 |
| LitVar | rs80356704 |
| Map | rs80356704 |
| PheGenI | rs80356704 |
| Biobank | rs80356704 |
| 1000 genomes | rs80356704 |
| hgdp | rs80356704 |
| ensembl | rs80356704 |
| geneview | rs80356704 |
| scholar | rs80356704 |
| rs80356704 | |
| pharmgkb | rs80356704 |
| gwascentral | rs80356704 |
| openSNP | rs80356704 |
| 23andMe | rs80356704 |
| SNPshot | rs80356704 |
| SNPdbe | rs80356704 |
| MSV3d | rs80356704 |
| GWAS Ctlg | rs80356704 |
| GMAF | 0.0004591 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | Rs80356704(T;T) |
| Alt | Rs80356704(T;T) |
| Reference | Rs80356704(C;C) |
| Significance | Pathogenic |
| Disease | Myotonia congenita |
| Variation | info |
| Gene | CLCN1 |
| CLNDBN | Myotonia congenita |
| Reversed | 0 |
| HGVS | NC_000007.13:g.143039031C>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020102.1, |
