Dec 7, 2019 · [PMID 24096169] Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome.
Potassium channel gene associations with joint processing speed and ...
pubmed.ncbi.nlm.nih.gov › ...
Rs8234 has been shown to affect KCNQ1 expression levels, and KCNQ1 levels have been shown to affect neuronal action potentials. This exploratory analysis ...
Dec 23, 2011 · All patients were genotyped for SNPs in KCNQ1's 3′UTR, and six SNPs were found. Single nucleotide polymorphisms rs2519184, rs8234, and rs10798 ...
It is unknown why disease penetrance and expressivity is so variable between individuals hosting identical mutations. We aimed to study whether this can be ...
Aug 1, 2016 · The 3 SNPs (rs2519184, rs8234, and rs10798) were genotyped in a total of 747 KCNQ1 mutation carriers with A341V, G589D, or IVS7-2A>G mutation.
common in clinvar. Is a, genotype. of, rs8234. Gene, KCNQ1, KCNQ1-AS1. Chromosome, 11. Position, 2,848,878. mentioned, by ...
Sep 11, 2018 · rs8234, KCNQ1, 3′ UTR, A>G, G, Inconsistently associated with ↑ QT and↑ risk of cardiac events, 25–28. rs10798, KCNQ1, 3′ UTR, A>G, G ...
effects of SNPs rs8234 and rs10798 in linkage disequilibrium are displayed in (B) and (E); allele-specific haplotype analyses of the 3 SNPs are displayed in ...
Feb 11, 2017 · Rs8234 has been shown experimentally to influence the expression level of KCNQ1 with the A allele being associated with higher expression than ...