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rs365990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 1.1 risk genotype
Make rs365990(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23392602
GeneMYH6
is asnp
is mentioned by
dbSNPrs365990
ebirs365990
HLIrs365990
Exacrs365990
Varsomers365990
Maprs365990
PheGenIrs365990
hapmaprs365990
1000 genomesrs365990
hgdprs365990
ensemblrs365990
gopubmedrs365990
geneviewrs365990
scholarrs365990
googlers365990
pharmgkbrs365990
gwascentralrs365990
openSNPrs365990
23andMers365990
23andMe allrs365990
SNP Nexus

SNPshotrs365990
SNPdbers365990
MSV3drs365990
GWAS Ctlgrs365990
GMAF0.36
Max Magnitude1.1
? (A;A) (A;G) (G;G) 28
rs365990 is a nonsynonymous SNP in exon 25 of the MYH6 gene, coding for the alpha myosin heavy chain (alpha-MyHC) protein. The A->G nucleotide change results in the A1101V missense mutation in alpha-MyHc.

[rs365990]] was discovered in a study conducted by deCODE Genetics [PMID 20062063] as being most significantly associated primarily with heart rate, but also with PR interval. In the Icelandic cohort of ~10,000 individuals in the discovery phase and an additional ~10,000 individuals in the follow-up phase, the rs365990 G allele frequency was 0.34, and the G allele was associated with decreased heart rate (p=9.4E-11 for both phases combined) and with a prolonged PR interval (p=1.8E-5 combined). After adjusting for heart rate, the association of rs365990 with PR interval maintained significance (p=0.0027 combined).

rs365990[G] is associated with a 0.91-beat decrease in heart rate per minute [PMID ]. This was replicated in a meta-analysis of 38,991 individuals of European descent, where the A allele of rs452306 was found to be associated with with a 0.58bpm decrease in resting heart rate per A allele [PMID ]. rs452306 is in linkage disequilibrium with rs365990 (r2=0.96 in HapMap CEU), and it was suggested that rs365990 is the functional variant.

It was not, however, associated with atrial fibrillation (p=0.14 combined), pacemaker (p=0.13 combined), sick sinus syndrome (p=0.18 combined), or advanced AV block (p=0.33 combined).

GWAS snp
PMID [PMID 20062063]
Trait Electrocardiographic traits
Title Several common variants modulate heart rate, PR interval and QRS duration
Risk Allele G
P-val 9E-11
Odds Ratio
GWAS
SNP rs365990
PubMedID [PMID 20639392OA-icon.png]
Condition Resting heart rate
Gene MYH6
Risk Allele G
pValue
OR
95% CI


[PMID 20592870OA-icon.png] Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.


[PMID 21378987OA-icon.png] A rare variant in MYH6 is associated with high risk of sick sinus syndrome.


GET Evidence
MYH6-V1101A
aa_change Val1101Ala
aa_change_short V1101A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.460866
summary



GWAS snp
PMID [PMID 23583979OA-icon.png]
Trait Heart rate
Title Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
Risk Allele G
P-val 5E-45
Odds Ratio .56 [0.47-0.66] unit increase


ClinVar
Risk rs365990(G;G)
Alt rs365990(G;G)
Reference rs365990(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MYH6
CLNDBN not specified
Reversed 0
HGVS NC_000014.8:g.23861811A>G
CLNSRC ClinVar
CLNACC RCV000037473.3,