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rs199473353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473353(A;A)
Make rs199473353(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449496
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473353
ebirs199473353
HLIrs199473353
Exacrs199473353
Varsomers199473353
Maprs199473353
PheGenIrs199473353
hapmaprs199473353
1000 genomesrs199473353
hgdprs199473353
ensemblrs199473353
gopubmedrs199473353
geneviewrs199473353
scholarrs199473353
googlers199473353
pharmgkbrs199473353
gwascentralrs199473353
openSNPrs199473353
23andMers199473353
23andMe allrs199473353
SNP Nexus

SNPshotrs199473353
SNPdbers199473353
MSV3drs199473353
GWAS Ctlgrs199473353
Max Magnitude0
ClinVar
Risk rs199473353(A,T;A,T)
Alt rs199473353(A,T;A,T)
Reference rs199473353(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.35821794C>A
CLNSRC ClinVar
CLNACC RCV000119065.1,