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rs10798

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs10798(A;G)
Make rs10798(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2848935
GeneKCNQ1, KCNQ1-AS1
is asnp
is mentioned by
dbSNPrs10798
dbSNP (classic)rs10798
ClinGenrs10798
ebirs10798
HLIrs10798
Exacrs10798
Gnomadrs10798
Varsomers10798
LitVarrs10798
Maprs10798
PheGenIrs10798
Biobankrs10798
1000 genomesrs10798
hgdprs10798
ensemblrs10798
geneviewrs10798
scholarrs10798
googlers10798
pharmgkbrs10798
gwascentralrs10798
openSNPrs10798
23andMers10798
SNPshotrs10798
SNPdbers10798
MSV3drs10798
GWAS Ctlgrs10798
GMAF0.489
Max Magnitude0
? (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 18454203OA-icon.png] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.


[PMID 19214780OA-icon.png] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).


[PMID 22199116OA-icon.png] 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,