rs138551008
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs138551008(C;T) |
| Make rs138551008(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2775977 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138551008 |
| dbSNP (classic) | rs138551008 |
| ClinGen | rs138551008 |
| ebi | rs138551008 |
| HLI | rs138551008 |
| Exac | rs138551008 |
| Gnomad | rs138551008 |
| Varsome | rs138551008 |
| LitVar | rs138551008 |
| Map | rs138551008 |
| PheGenI | rs138551008 |
| Biobank | rs138551008 |
| 1000 genomes | rs138551008 |
| hgdp | rs138551008 |
| ensembl | rs138551008 |
| geneview | rs138551008 |
| scholar | rs138551008 |
| rs138551008 | |
| pharmgkb | rs138551008 |
| gwascentral | rs138551008 |
| openSNP | rs138551008 |
| 23andMe | rs138551008 |
| SNPshot | rs138551008 |
| SNPdbe | rs138551008 |
| MSV3d | rs138551008 |
| GWAS Ctlg | rs138551008 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138551008(A;A) rs138551008(T;T) |
| Alt | rs138551008(A;A) rs138551008(T;T) |
| Reference | Rs138551008(C;C) |
| Significance | Pathogenic |
| Disease | Long QT syndrome not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome, LQT1 subtype not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2797207C>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000046004.2, RCV000182320.3, |
