{{Rsnum
|rsid=1800172
|Gene=KCNQ1
|Chromosome=11
|position=2847899
|Orientation=plus
|GMAF=0.01745
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=KCNQ1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 12.8 | 87.2
| JPT | 0.0 | 11.4 | 88.6
| YRI | 0.0 | 3.5 | 96.5
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 12.8 | 87.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs1800172
|Name_s=KCNQ1:G643S
|Gene_s=KCNQ1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:10973849; PubMed ID:16723781
|Annotation=Secondary LQTS1.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145092
}}

{{ClinVar
|rsid=1800172
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=2869129
|CHROM=11
|GMAF=0.0174
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050178000000150517100100
|GENEINFO=KCNQ1:3784
|GENE_NAME=KCNQ1
|GENE_ID=3784
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.2869129G>A
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=3
|CLNDBN=Cardiac arrhythmia; not provided
|Disease=Cardiac arrhythmia; not provided
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.9826; 0.01745
|CLNACC=RCV000030109.1; RCV000057650.1
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C0003811:115000
|COMMON=1
}}

{{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=17221872
|Title=Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.
}}

{{PMID Auto
|PMID=18426444
|Title=Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.
}}

{{PMID Auto
|PMID=155004
|Title=Impairment of olfactory perception in male rats by treatment with p-chlorophenylalanine and hydrocortisone.
}}

{{PMID Auto
|PMID=9799083
|Title=Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
}}

{{PMID Auto
|PMID=10807545
|Title=Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.
}}

{{PMID Auto
|PMID=11761407
|Title=Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias.
}}

{{PMID Auto
|PMID=15028050
|Title=Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
}}

{{GET Evidence
|gene=KCNQ1
|aa_change=Gly643Ser
|aa_change_short=G643S
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800172
|overall_frequency_n=73
|overall_frequency_d=10522
|overall_frequency=0.00693784
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=5
|webscore=N
|n_web_uneval=10
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}