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rs74315448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315448(C;C)
Make rs74315448(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position34370648
GeneKCNE2
is asnp
is mentioned by
dbSNPrs74315448
ebirs74315448
HLIrs74315448
Exacrs74315448
Varsomers74315448
Maprs74315448
PheGenIrs74315448
hapmaprs74315448
1000 genomesrs74315448
hgdprs74315448
ensemblrs74315448
gopubmedrs74315448
geneviewrs74315448
scholarrs74315448
googlers74315448
pharmgkbrs74315448
gwascentralrs74315448
openSNPrs74315448
23andMers74315448
23andMe allrs74315448
SNP Nexus

SNPshotrs74315448
SNPdbers74315448
MSV3drs74315448
GWAS Ctlgrs74315448
GMAF0.005051
Max Magnitude0
OMIM603796
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315448(C;C)
Alt rs74315448(C;C)
Reference rs74315448(T;T)
Significance Other
Disease Long QT syndrome 6 not provided Cardiac arrhythmia not specified
Variation info
Gene KCNE2
CLNDBN Long QT syndrome 6 not provided Cardiac arrhythmia not specified
Reversed 0
HGVS NC_000021.8:g.35742947T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006426.2, RCV000058362.4, RCV000148521.4, RCV000212498.1,


[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 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

[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.