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rs12143842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal
(C;T) 4.4ms QT interval duration increase on average
(T;T) 8.8ms QT interval duration increase on average
ReferenceGRCh38 38.1/141
Chromosome1
Position162064100
is asnp
is mentioned by
dbSNPrs12143842
ebirs12143842
HLIrs12143842
Exacrs12143842
Varsomers12143842
Maprs12143842
PheGenIrs12143842
hapmaprs12143842
1000 genomesrs12143842
hgdprs12143842
ensemblrs12143842
gopubmedrs12143842
geneviewrs12143842
scholarrs12143842
googlers12143842
pharmgkbrs12143842
gwascentralrs12143842
openSNPrs12143842
23andMers12143842
23andMe allrs12143842
SNP Nexus

SNPshotrs12143842
SNPdbers12143842
MSV3drs12143842
GWAS Ctlgrs12143842
GMAF0.2429
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs12143842 is a SNP within 100kb of the NOS1AP gene.

A study of participants in the Rotterdam Study, a population-based, prospective cohort study of individuals >/=55 years of age, concluded that each rs12143842(T) allele was associated with a QT-interval duration increase of 4.4-ms (p =4.4x10e-28). This SNP is the most strongly associated with QT interval of all known to date (at the time of publication). [PMID 18927126]

GWAS snp
PMID [PMID 19305408OA-icon.png]
Trait QT interval
Title Common variants at ten loci influence QT interval duation in the QTGEN Study
Risk Allele T
P-val 2E-78
Odds Ratio 3.15 [2.81-3.49] msec increase
GWAS snp
PMID [PMID 19305409OA-icon.png]
Trait QT interval
Title Common variants at ten loci modulate the QT interval duration in the QTSCD Study
Risk Allele T
P-val 2E-78
Odds Ratio 2.88 [2.43-3.33] ms increase
OMIM610141
DescQT INTERVAL, VARIATION IN
Variant
Relatedalso

Publications[edit]

[PMID 26332198] NOS1AP polymorphisms modify QTc interval duration but not cardiac arrest risk in hypertrophic cardiomyopathy

[PMID 25819866] Genetic markers of repolarization and arrhythmic events after acute coronary syndromes

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

[PMID 23166209OA-icon.png] The Impact of Ancestry and Common Genetic Variants on QT Interval in African Americans

[PMID 23092954OA-icon.png] SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.

[PMID 20722683OA-icon.png] A common variant of NOS1AP is associated with QT interval duration in a Chinese population with Type 2 diabetes

[PMID 19587794OA-icon.png] Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies





GET Evidence
rs12143842
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.273438
summary