{{Rsnum
|rsid=365990
|Gene=MYH6
|Chromosome=14
|position=23392602
|Orientation=plus
|GMAF=0.36
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MYH6
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 47.8 | 41.6 | 10.6
| HCB | 62.0 | 35.0 | 2.9
| JPT | 76.1 | 22.1 | 1.8
| YRI | 10.9 | 44.9 | 44.2
| ASW | 21.1 | 43.9 | 35.1
| CHB | 62.0 | 35.0 | 2.9
| CHD | 69.7 | 26.6 | 3.7
| GIH | 43.6 | 41.6 | 14.9
| LWK | 7.3 | 51.8 | 40.9
| MEX | 62.1 | 29.3 | 8.6
| MKK | 12.2 | 40.4 | 47.4
| TSI | 31.4 | 52.9 | 15.7
| HapMapRevision=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).    

{{PMID Auto GWAS
|PMID=20062063
|Trait=Electrocardiographic traits
|Title=Several common variants modulate heart rate, PR interval and QRS duration
|RiskAllele=G
|Pval=9E-11
}}

{{GWAS Summary
|PubMedID=20639392
|SNP=rs365990
|Condition=Resting heart rate
|Gene=MYH6
|Title=Genome-wide association analysis identifies multiple loci related to resting heart rate
|Risk Allele = G
|OA=1
}}

{{PMID Auto
|PMID=20592870
|Title=Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.
|OA=1
}}

{{PMID Auto
|PMID=21378987
|Title=A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
|OA=1
}}

{{GET Evidence
|gene=MYH6
|aa_change=Val1101Ala
|aa_change_short=V1101A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs365990
|overall_frequency_n=4958
|overall_frequency_d=10758
|overall_frequency=0.460866
|n_genomes=37
|n_genomes_annotated=0
|n_haplomes=53
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=2
|n_web_uneval=2
}}

{{PMID Auto GWAS
  |PMID=23583979
  |Trait=Heart rate
  |Title=Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
  |RiskAllele=G
  |Pval=5E-45
  |OR=.56
  |ORtxt=[0.47-0.66] unit increase
  }}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}