{{Rsnum
|rsid = 28933384
|Gene = KCNE1
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=21
|position=34449615
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KCNE1
}}{{omim
|desc=JERVELL AND LANGE-NIELSEN SYNDROME
|id=176261
|rsnum=28933384
|variant=0002
}}

{{ neighbor
| rsid = 17846179
| distance = 92
}}

{{PharmGKB
|RSID=rs28933384
|Name_s=KCNE1:Thr7Ile
|Gene_s=KCNE1
|Feature=
|Evidence=PubMed ID:9354783
|Annotation=In one family, this mutation is associated with Jervell and Lange-Nielsen syndrome (JLNS), along with an Asp76Asn mutation.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145086
}}

{{ClinVar
|rsid=28933384
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=35821913
|CHROM=21
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000000102110100
|GENEINFO=KCNE1:3753
|GENE_NAME=KCNE1
|GENE_ID=3753
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.35821913G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=176261.0002
|CLNSIG=5
|CLNCUI=C2676723
|CLNDBN=Jervell and Lange-Nielsen syndrome 2; not provided
|Disease=Jervell and Lange-Nielsen syndrome 2; not provided
|CLNACC=RCV000014418.24; RCV000057848.1
|Tags=RV;PM;PMC;S3D;SLO;GNO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1405:C2676723:612347:768:90647
}}

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

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