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rs199473354

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473354(A;A)
Make rs199473354(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449481
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473354
ebirs199473354
HLIrs199473354
Exacrs199473354
Varsomers199473354
Maprs199473354
PheGenIrs199473354
hapmaprs199473354
1000 genomesrs199473354
hgdprs199473354
ensemblrs199473354
gopubmedrs199473354
geneviewrs199473354
scholarrs199473354
googlers199473354
pharmgkbrs199473354
gwascentralrs199473354
openSNPrs199473354
23andMers199473354
23andMe allrs199473354
SNP Nexus

SNPshotrs199473354
SNPdbers199473354
MSV3drs199473354
GWAS Ctlgrs199473354
Max Magnitude0
ClinVar
Risk rs199473354(A;A)
Alt rs199473354(A;A)
Reference rs199473354(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNE1
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821779C>T
CLNSRC ClinVar
CLNACC RCV000119066.1,