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, |