rs10798
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs10798(A;G) |
| Make rs10798(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2848935 |
| Gene | KCNQ1, KCNQ1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10798 |
| dbSNP (classic) | rs10798 |
| ClinGen | rs10798 |
| ebi | rs10798 |
| HLI | rs10798 |
| Exac | rs10798 |
| Gnomad | rs10798 |
| Varsome | rs10798 |
| LitVar | rs10798 |
| Map | rs10798 |
| PheGenI | rs10798 |
| Biobank | rs10798 |
| 1000 genomes | rs10798 |
| hgdp | rs10798 |
| ensembl | rs10798 |
| geneview | rs10798 |
| scholar | rs10798 |
| rs10798 | |
| pharmgkb | rs10798 |
| gwascentral | rs10798 |
| openSNP | rs10798 |
| 23andMe | rs10798 |
| SNPshot | rs10798 |
| SNPdbe | rs10798 |
| MSV3d | rs10798 |
| GWAS Ctlg | rs10798 |
| GMAF | 0.489 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24096169] Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome
[PMID 18454203
] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 22199116] Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
[PMID 27531917] Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?
| ClinVar | |
|---|---|
| Risk | rs10798(G;G) |
| Alt | rs10798(G;G) |
| Reference | Rs10798(A;A) |
| Significance | Non-pathogenic |
| Disease | Romano-Ward syndrome Long QT syndrome Familial atrial fibrillation Short QT syndrome Jervell and Lange-Nielsen syndrome |
| Variation | info |
| Gene | KCNQ1-AS1 KCNQ1 |
| CLNDBN | Romano-Ward syndrome Long QT syndrome Familial atrial fibrillation short QT syndrome Jervell and Lange-Nielsen syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2870165A>G |
| CLNSRC | |
| CLNACC | RCV000273314.1, RCV000303606.1, RCV000328317.1, RCV000358658.1, RCV000364323.1, |
