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rs74315449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315449(C;T)
Make rs74315449(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position34370557
GeneKCNE2
is asnp
is mentioned by
dbSNPrs74315449
ebirs74315449
HLIrs74315449
Exacrs74315449
Varsomers74315449
Maprs74315449
PheGenIrs74315449
hapmaprs74315449
1000 genomesrs74315449
hgdprs74315449
ensemblrs74315449
gopubmedrs74315449
geneviewrs74315449
scholarrs74315449
googlers74315449
pharmgkbrs74315449
gwascentralrs74315449
openSNPrs74315449
23andMers74315449
23andMe allrs74315449
SNP Nexus

SNPshotrs74315449
SNPdbers74315449
MSV3drs74315449
GWAS Ctlgrs74315449
Max Magnitude0
OMIM603796
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315449(T;T)
Alt rs74315449(T;T)
Reference rs74315449(C;C)
Significance Pathogenic
Disease Atrial fibrillation Atrial fibrillation Long QT syndrome Primary familial hypertrophic cardiomyopathy
Variation info
Gene KCNE2
CLNDBN Atrial fibrillation, familial, 4 Atrial fibrillation Long QT syndrome Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000021.8:g.35742856C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006427.2, RCV000058377.2, RCV000157256.1,


[PMID 15368194OA-icon.png] Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.

[PMID 16487223OA-icon.png] Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.