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rs74315446

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315446(C;T)
Make rs74315446(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position34449414
GeneKCNE1
is asnp
is mentioned by
dbSNPrs74315446
ebirs74315446
HLIrs74315446
Exacrs74315446
Varsomers74315446
Maprs74315446
PheGenIrs74315446
hapmaprs74315446
1000 genomesrs74315446
hgdprs74315446
ensemblrs74315446
gopubmedrs74315446
geneviewrs74315446
scholarrs74315446
googlers74315446
pharmgkbrs74315446
gwascentralrs74315446
openSNPrs74315446
23andMers74315446
23andMe allrs74315446
SNP Nexus

SNPshotrs74315446
SNPdbers74315446
MSV3drs74315446
GWAS Ctlgrs74315446
GMAF0.0004591
Max Magnitude0
OMIM176261
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315446(T;T)
Alt rs74315446(T;T)
Reference rs74315446(C;C)
Significance Pathogenic
Disease Long QT syndrome 5 Congenital long QT syndrome
Variation info
Gene KCNE1
CLNDBN Long QT syndrome 5 Congenital long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821712G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014421.25, RCV000119079.1,


[PMID 9354802] Mutations in the hminK gene cause long QT syndrome and suppress IKs function.

[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.

[PMID 19907016OA-icon.png] Mechanisms of disease pathogenesis in long QT syndrome type 5.