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, |