rs8234
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs8234(A;G) |
| Make rs8234(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2848878 |
| Gene | KCNQ1, KCNQ1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8234 |
| dbSNP (classic) | rs8234 |
| ClinGen | rs8234 |
| ebi | rs8234 |
| HLI | rs8234 |
| Exac | rs8234 |
| Gnomad | rs8234 |
| Varsome | rs8234 |
| LitVar | rs8234 |
| Map | rs8234 |
| PheGenI | rs8234 |
| Biobank | rs8234 |
| 1000 genomes | rs8234 |
| hgdp | rs8234 |
| ensembl | rs8234 |
| geneview | rs8234 |
| scholar | rs8234 |
| rs8234 | |
| pharmgkb | rs8234 |
| gwascentral | rs8234 |
| openSNP | rs8234 |
| 23andMe | rs8234 |
| SNPshot | rs8234 |
| SNPdbe | rs8234 |
| MSV3d | rs8234 |
| GWAS Ctlg | rs8234 |
| GMAF | 0.4848 |
| 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 19214780
] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 20403199] High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
[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?
[PMID 28188958] Potassium Channel Gene Associations with Joint Processing Speed and White Matter Impairments in Schizophrenia.
| ClinVar | |
|---|---|
| Risk | rs8234(G;G) |
| Alt | rs8234(G;G) |
| Reference | Rs8234(A;A) |
| Significance | Non-pathogenic |
| Disease | Romano-Ward syndrome Long QT syndrome Short QT syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation |
| Variation | info |
| Gene | KCNQ1-AS1 KCNQ1 |
| CLNDBN | Romano-Ward syndrome Long QT syndrome short QT syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2870108A>G |
| CLNSRC | |
| CLNACC | RCV000291070.1, RCV000306710.1, RCV000345978.1, RCV000376159.1, RCV000403219.1, |
