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rs8234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs8234(A;G)
Make rs8234(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2848878
GeneKCNQ1, KCNQ1-AS1
is asnp
is mentioned by
dbSNPrs8234
dbSNP (classic)rs8234
ClinGenrs8234
ebirs8234
HLIrs8234
Exacrs8234
Gnomadrs8234
Varsomers8234
LitVarrs8234
Maprs8234
PheGenIrs8234
Biobankrs8234
1000 genomesrs8234
hgdprs8234
ensemblrs8234
geneviewrs8234
scholarrs8234
googlers8234
pharmgkbrs8234
gwascentralrs8234
openSNPrs8234
23andMers8234
SNPshotrs8234
SNPdbers8234
MSV3drs8234
GWAS Ctlgrs8234
GMAF0.4848
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 19214780OA-icon.png] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).


[PMID 20403199OA-icon.png] High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.


[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?


[PMID 28188958OA-icon.png] 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,