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rs141813529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs141813529(A;G)
Make rs141813529(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position34449459
GeneKCNE1
is asnp
is mentioned by
dbSNPrs141813529
ebirs141813529
HLIrs141813529
Exacrs141813529
Varsomers141813529
Maprs141813529
PheGenIrs141813529
hapmaprs141813529
1000 genomesrs141813529
hgdprs141813529
ensemblrs141813529
gopubmedrs141813529
geneviewrs141813529
scholarrs141813529
googlers141813529
pharmgkbrs141813529
gwascentralrs141813529
openSNPrs141813529
23andMers141813529
23andMe allrs141813529
SNP Nexus

SNPshotrs141813529
SNPdbers141813529
MSV3drs141813529
GWAS Ctlgrs141813529
Max Magnitude0
ClinVar
Risk rs141813529(G;G)
Alt rs141813529(G;G)
Reference rs141813529(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNE1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000021.8:g.35821757A>G
CLNSRC ClinVar
CLNACC RCV000119071.1,


[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.