{{Rsnum
|rsid=34967813
|Gene=RYR2
|Chromosome=1
|position=237678090
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1437
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=RYR2
}}{{Venter SNP
|rsid=34967813
|allele=G
|frequency=
|uid=1103675374331
|type=heterozygous_SNP
|hugo=RYR2
|ensembl gene=ENSG00000198626
|ensembl transcript=ENST00000366574
|sift=TOLERATED
|disease=Defects in RYR2 are a cause of familial polymorphic ventricular tachycardia (FPVT) (MIM:192605). FPVT is an autosomal- dominant, inherited disease with a relatively early onset and a mortality rate of approximately 30% by the age of 30 years. Phenotypically, it is characterized by salvoes of bidirectional and polymorphic ventricular tachycardias in response to vigorous exercise, with no structural evidence of myocardial disease.
}}

{{ClinVar
|rsid=34967813
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=237678090
|CHROM=1
|GMAF=0.1433
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050168080a05170516100100
|GENEINFO=RYR2:6262
|GENE_NAME=RYR2
|GENE_ID=6262
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.237678090A>G
|CLNSRC=ClinVar; Emory University; GeneDx; LabCorp
|CLNORIGIN=1
|CLNSIG=3
|CLNDBN=Cardiomyopathy; AllHighlyPenetrant; not provided
|Disease=Cardiomyopathy; AllHighlyPenetrant; not provided
|Tags=PM;PMC;SLO;NSM;REF;INT;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.8563; 0.1437
|CLNACC=RCV000030429.1; RCV000036801.2; RCV000127843.1
|CLNDSDB=MedGen:SNOMED_CT; MedGen
|CLNDSDBID=C0878544:85898001; CN169374
|COMMON=1
|CLNSRCID=NM_001035.2:c.8873A>G; 8838; 18126
}}

{{PMID|11157710}} Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.

{{PMID|11159936}} Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).

{{PMID|18437561|OA=1
}} Genomics, heart failure and sudden cardiac death.

{{PMID|19597050}} Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER).

{{PMID|19926015|OA=1
}} The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

{{GET Evidence
|gene=RYR2
|aa_change=Gln2958Arg
|aa_change_short=Q2958R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs34967813
|overall_frequency_n=2178
|overall_frequency_d=9718
|overall_frequency=0.22412
|n_genomes=15
|n_genomes_annotated=0
|n_haplomes=16
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=8
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}