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rs147187721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs147187721(G;G)
Make rs147187721(G;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position34449463
GeneKCNE1
is asnp
is mentioned by
dbSNPrs147187721
ebirs147187721
HLIrs147187721
Exacrs147187721
Varsomers147187721
Maprs147187721
PheGenIrs147187721
hapmaprs147187721
1000 genomesrs147187721
hgdprs147187721
ensemblrs147187721
gopubmedrs147187721
geneviewrs147187721
scholarrs147187721
googlers147187721
pharmgkbrs147187721
gwascentralrs147187721
openSNPrs147187721
23andMers147187721
23andMe allrs147187721
SNP Nexus

SNPshotrs147187721
SNPdbers147187721
MSV3drs147187721
GWAS Ctlgrs147187721
Max Magnitude0
ClinVar
Risk rs147187721(G;G)
Alt rs147187721(G;G)
Reference rs147187721(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNE1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000021.8:g.35821761T>G
CLNSRC ClinVar
CLNACC RCV000119070.1,


[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.