rs80356707
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356707(-;-) |
| Make rs80356707(-;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 143346624 |
| Gene | CLCN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356707 |
| dbSNP (classic) | rs80356707 |
| ClinGen | rs80356707 |
| ebi | rs80356707 |
| HLI | rs80356707 |
| Exac | rs80356707 |
| Gnomad | rs80356707 |
| Varsome | rs80356707 |
| LitVar | rs80356707 |
| Map | rs80356707 |
| PheGenI | rs80356707 |
| Biobank | rs80356707 |
| 1000 genomes | rs80356707 |
| hgdp | rs80356707 |
| ensembl | rs80356707 |
| geneview | rs80356707 |
| scholar | rs80356707 |
| rs80356707 | |
| pharmgkb | rs80356707 |
| gwascentral | rs80356707 |
| openSNP | rs80356707 |
| 23andMe | rs80356707 |
| SNPshot | rs80356707 |
| SNPdbe | rs80356707 |
| MSV3d | rs80356707 |
| GWAS Ctlg | rs80356707 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356707(-;-) |
| Alt | rs80356707(-;-) |
| Reference | Rs80356707(G;G) |
| Significance | Pathogenic |
| Disease | Myotonia congenita |
| Variation | info |
| Gene | CLCN1 |
| CLNDBN | Myotonia congenita |
| Reversed | 0 |
| HGVS | NC_000007.13:g.143043717delG |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020105.1, |
[PMID 16629771] Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.
[PMID 17097617] Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.
