Have questions? Visit https://www.reddit.com/r/SNPedia

rs16847548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.5 2.6x increased risk for sudden cardiac death in Caucasians
(C;T) 1.3 1.3x increased risk for sudden cardiac death in Caucasians
(T;T) normal
ReferenceGRCh38 38.1/141
Chromosome1
Position162065484
is asnp
is mentioned by
dbSNPrs16847548
ebirs16847548
HLIrs16847548
Exacrs16847548
Varsomers16847548
Maprs16847548
PheGenIrs16847548
hapmaprs16847548
1000 genomesrs16847548
hgdprs16847548
ensemblrs16847548
gopubmedrs16847548
geneviewrs16847548
scholarrs16847548
googlers16847548
pharmgkbrs16847548
gwascentralrs16847548
openSNPrs16847548
23andMers16847548
23andMe allrs16847548
SNP Nexus

SNPshotrs16847548
SNPdbers16847548
MSV3drs16847548
GWAS Ctlgrs16847548
GMAF0.2447
Max Magnitude2.5
? (C;C) (C;T) (T;T) 28
[PMID 19180230OA-icon.png] rs16847548 and rs16856785 strongly associated with QT interval

[PMID 19204306OA-icon.png] Based on a large study of 19,000+ adults, SNPs rs10494366, rs4657139 and rs16847548 were significantly associated with adjusted QT interval in whites but not in African-Americans. The relative hazard of sudden cardiac death (SCD) associated with each rs16847548(C) allele was 1.31 (CI: 1.10 - 1.56, p=0.002). rs12567209 was also independently associated with SCD in whites (relative hazard 0.57, CI: 0.39 - 0.83, p=0.003).


[PMID 20538168] Polymorphisms in the NOS1AP Gene Modulate QT Interval Duration and Risk of Arrhythmias in the Long QT Syndrome


[PMID 19822806OA-icon.png] NOS1AP is a genetic modifier of the long-QT syndrome.


[PMID 24096169] Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome


[PMID 22708720] Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.