rs28929768
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (T;T) | 0 | common in clinvar |
| Make rs28929768(C;C) |
| Make rs28929768(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 4902268 |
| Gene | CHRNE, C17orf107 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28929768 |
| dbSNP (classic) | rs28929768 |
| ClinGen | rs28929768 |
| ebi | rs28929768 |
| HLI | rs28929768 |
| Exac | rs28929768 |
| Gnomad | rs28929768 |
| Varsome | rs28929768 |
| LitVar | rs28929768 |
| Map | rs28929768 |
| PheGenI | rs28929768 |
| Biobank | rs28929768 |
| 1000 genomes | rs28929768 |
| hgdp | rs28929768 |
| ensembl | rs28929768 |
| geneview | rs28929768 |
| scholar | rs28929768 |
| rs28929768 | |
| pharmgkb | rs28929768 |
| gwascentral | rs28929768 |
| openSNP | rs28929768 |
| 23andMe | rs28929768 |
| SNPshot | rs28929768 |
| SNPdbe | rs28929768 |
| MSV3d | rs28929768 |
| GWAS Ctlg | rs28929768 |
| Max Magnitude | 0 |
| OMIM | 100725 |
| Desc | MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL, AUTOSOMAL RECESSIVE |
| Variant | 0009 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs28929768(C;C) |
| Alt | rs28929768(C;C) |
| Reference | Rs28929768(T;T) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | C17orf107 CHRNE |
| CLNDBN | |
| Reversed | 1 |
| HGVS | NC_000017.10:g.4805563A>G |
| CLNSRC | |
| CLNACC | |
