{{Rsnum
|rsid = 17846179
|Gene = KCNE1
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=21
|position=34449523
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Status=Merged
|Merged=1805127
|Gene_s=KCNE1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 40.2 | 49.1 | 10.7
| HCB | 44.1 | 46.3 | 9.6
| JPT | 50.9 | 41.1 | 8.0
| YRI | 51.7 | 43.5 | 4.8
| ASW | 56.1 | 35.1 | 8.8
| CHB | 44.1 | 46.3 | 9.6
| CHD | 50.0 | 46.3 | 3.7
| GIH | 45.0 | 46.0 | 9.0
| LWK | 55.5 | 37.3 | 7.3
| MEX | 43.1 | 43.1 | 13.8
| MKK | 63.5 | 33.3 | 3.2
| TSI | 31.4 | 53.9 | 14.7
| HapMapRevision=28
}}{{Venter SNP
|rsid=17846179
|allele=C
|frequency=
|uid=1103643111453
|type=homozygous_SNP
|hugo=KCNE1
|ensembl gene=ENSG00000180509
|ensembl transcript=ENST00000337385
|sift=TOLERATED
|disease=Defects in KCNE1 are the cause of long QT syndrome type 5 (LQT5) (MIM:176261). Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. KCNE1 mutants form channels that open slowly and close rapidly, thereby diminishing potassium currents.
}}

{{ neighbor
| rsid = 28933384
| distance = 92
}}

{{GET Evidence
|gene=KCNE1
|aa_change=Ser38Gly
|aa_change_short=S38G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs17846179
|overall_frequency_n=7074
|overall_frequency_d=10758
|overall_frequency=0.657557
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=76
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.003
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=10
}}

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