{{Rsnum
|rsid=36210421
|Gene=KCNH2
|Chromosome=7
|position=150947340
|Orientation=plus
|GMAF=0.01699
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=KCNH2
}}{{PharmGKB
|RSID=rs36210421
|Name_s=R1047L
|Gene_s=KCNH2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:14975928
|Annotation=in vitro studies showed cisapride has same sensitivity for WT and this varian
|Drugs=
|Drug Classes=
|Diseases=Acquired Long QT Syndrome (aLQTS); Long QT Syndrome
|Curation Level=Curated
|PharmGKB Accession ID=PA164762498
}}

{{PharmGKB
|RSID=rs36210421
|Name_s=KCNH2: R1047L
|Gene_s=KCNH2
|Feature=Exon/NonSyn
|Evidence=PubMed ID:15522280
|Annotation=Results of in vitro assays from this study suggest that the R1047L polymorphism leads to a functional impairment of the channel, which may contribute to the higher incidence of Torsades de Pointes in 1047L carriers when challenged with a channel blocker.
|Drugs=dofetilide
|Drug Classes=
|Diseases=Torsades de Pointes
|Curation Level=Curated
|PharmGKB Accession ID=PA162316642
}}

{{ClinVar
|rsid=36210421
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=150644428
|CHROM=7
|GMAF=0.0169
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050178000000110116100100
|GENEINFO=KCNH2:3757
|GENE_NAME=KCNH2
|GENE_ID=3757
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.150644428C>A
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=3
|CLNDBN=Cardiac arrhythmia; not provided
|Disease=Cardiac arrhythmia; not provided
|Tags=RV;PM;TPA;PMC;SLO;G5;GNO;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.983; 0.01699
|CLNACC=RCV000030101.1; RCV000058202.1
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C0003811:115000
|COMMON=1
}}

{{PMID Auto
|PMID=19019189
|Title=Common candidate gene variants are associated with QT interval duration in the general population.
|OA=1
}}

{{PMID Auto
|PMID=19214780
|Title=In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
|OA=1
}}

{{PMID Auto
|PMID=17210
|Title=[Carbogen therapy of acute cochlear disorders].
}}

{{PMID Auto
|PMID=14661677
|Title=Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
}}

{{PMID Auto
|PMID=16487223
|Title=Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.
|OA=1
}}

{{PMID Auto
|PMID=17161064
|Title=Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes.
}}

{{PMID Auto
|PMID=17275752
|Title=Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition.
}}

{{PMID Auto
|PMID=11468227
|Title=Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}