rs776073429
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs776073429(A;A) |
| Make rs776073429(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 7 |
| Position | 143323387 |
| Gene | CLCN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs776073429 |
| dbSNP (classic) | rs776073429 |
| ClinGen | rs776073429 |
| ebi | rs776073429 |
| HLI | rs776073429 |
| Exac | rs776073429 |
| Gnomad | rs776073429 |
| Varsome | rs776073429 |
| LitVar | rs776073429 |
| Map | rs776073429 |
| PheGenI | rs776073429 |
| Biobank | rs776073429 |
| 1000 genomes | rs776073429 |
| hgdp | rs776073429 |
| ensembl | rs776073429 |
| geneview | rs776073429 |
| scholar | rs776073429 |
| rs776073429 | |
| pharmgkb | rs776073429 |
| gwascentral | rs776073429 |
| openSNP | rs776073429 |
| 23andMe | rs776073429 |
| SNPshot | rs776073429 |
| SNPdbe | rs776073429 |
| MSV3d | rs776073429 |
| GWAS Ctlg | rs776073429 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs776073429(A;A) |
| Alt | rs776073429(A;A) |
| Reference | Rs776073429(G;G) |
| Significance | Pathogenic |
| Disease | not provided Myotonia congenita |
| Variation | info |
| Gene | CLCN1 |
| CLNDBN | not provided Myotonia congenita |
| Reversed | 0 |
| HGVS | NC_000007.13:g.143020480G>A |
| CLNSRC | Illumina |
| CLNACC | RCV000254934.1, RCV000305146.1, |
