Have questions? Visit https://www.reddit.com/r/SNPedia

rs74315447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315447(C;C)
Make rs74315447(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position34370639
GeneKCNE2
is asnp
is mentioned by
dbSNPrs74315447
ebirs74315447
HLIrs74315447
Exacrs74315447
Varsomers74315447
Maprs74315447
PheGenIrs74315447
hapmaprs74315447
1000 genomesrs74315447
hgdprs74315447
ensemblrs74315447
gopubmedrs74315447
geneviewrs74315447
scholarrs74315447
googlers74315447
pharmgkbrs74315447
gwascentralrs74315447
openSNPrs74315447
23andMers74315447
23andMe allrs74315447
SNP Nexus

SNPshotrs74315447
SNPdbers74315447
MSV3drs74315447
GWAS Ctlgrs74315447
Max Magnitude0
OMIM603796
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315447(C;C)
Alt rs74315447(C;C)
Reference rs74315447(T;T)
Significance Pathogenic
Disease Long QT syndrome 6 Congenital long QT syndrome Cardiac arrhythmia not provided
Variation info
Gene KCNE2
CLNDBN Long QT syndrome 6 Congenital long QT syndrome Cardiac arrhythmia not provided
Reversed 0
HGVS NC_000021.8:g.35742938T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006425.2, RCV000058360.2, RCV000148518.3, RCV000212497.1,


[PMID 10219239] MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.


[PMID 10984545OA-icon.png] A common polymorphism associated with antibiotic-induced cardiac arrhythmia.


[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.


[PMID 19716085OA-icon.png] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.