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rs10918594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) Shorter QT interval
(C;G) average QT interval
(G;G) Longer QT interval
ReferenceGRCh38 38.1/141
Chromosome1
Position162060898
GeneNOS1AP
is asnp
is mentioned by
dbSNPrs10918594
ebirs10918594
HLIrs10918594
Exacrs10918594
Varsomers10918594
Maprs10918594
PheGenIrs10918594
hapmaprs10918594
1000 genomesrs10918594
hgdprs10918594
ensemblrs10918594
gopubmedrs10918594
geneviewrs10918594
scholarrs10918594
googlers10918594
pharmgkbrs10918594
gwascentralrs10918594
openSNPrs10918594
23andMers10918594
23andMe allrs10918594
SNP Nexus

SNPshotrs10918594
SNPdbers10918594
MSV3drs10918594
GWAS Ctlgrs10918594
GMAF0.4288
Max Magnitude
rs10918594, a SNP near the NOS1AP gene encoding the nitric oxide synthase I protein, accounts for some of the variation seen in abnormal heart rhythms, in particular, the QT interval. Based on studies totaling ~4,000 individuals of Caucasian ancestry, homozygotes for one allele have shorter QT intervals, while homozygotes for the other allele have a longer QT interval. [PMID 16648850]

A follow-up study determined that one rs10918594(G) allele was associated with a 3.6-ms (CI: 2.7 - 4.4ms, p=6.9x10(-17)) increase in QT interval duration, and two (G) alleles had twice that increase. No increase in risk for sudden death due to a cardiac problem was associated with this SNP, though. [PMID 17576865]

[PMID 18235038] rs10494366 minor homozygotes had a 9.3 msec longer QT interval compared to major homozygotes (p=5.7x10(-5)); rs10918594 minor homozygotes had a 12.5 msec longer QT interval compared to major homozygotes (p=1.5x10(-6)). Restricting analyses to the diabetic EAs strengthened the effect despite the reduction in sample size (11.3 msec difference, p=5.1x10(-5); 13.9 msec difference, p=1.6x10(-6), respectively).

[PMID 19247217] Calcium channel blockers, NOS1AP, and heart-rate-corrected QT prolongation

OMIM610141
DescQT INTERVAL, VARIATION IN
Variant
Relatedalso
[PMID 20215044OA-icon.png] Relationship of Common Candidate Gene Variants to Electrocardiographic T-Wave Peak to T-Wave End Interval and T-Wave Morphology Parameters


[PMID 19019189OA-icon.png] Common candidate gene variants are associated with QT interval duration in the general population.


[PMID 21959512] Association of the rs10918594 of nitric oxide synthase 1 adaptor protein (NOS1AP) polymorphisms with the graft function after kidney transplantation.


[PMID 22019493] Cardiac levels of NOS1AP RNA from right ventricular tissue recovered during lead extraction.


GET Evidence
rs10918594
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.468254
summary