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rs199473645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473645(C;T)
Make rs199473645(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449436
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473645
ebirs199473645
HLIrs199473645
Exacrs199473645
Varsomers199473645
Maprs199473645
PheGenIrs199473645
hapmaprs199473645
1000 genomesrs199473645
hgdprs199473645
ensemblrs199473645
gopubmedrs199473645
geneviewrs199473645
scholarrs199473645
googlers199473645
pharmgkbrs199473645
gwascentralrs199473645
openSNPrs199473645
23andMers199473645
23andMe allrs199473645
SNP Nexus

SNPshotrs199473645
SNPdbers199473645
MSV3drs199473645
GWAS Ctlgrs199473645
Max Magnitude0
ClinVar
Risk rs199473645(A,T;A,T)
Alt rs199473645(A,T;A,T)
Reference rs199473645(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not specified
Variation info
Gene KCNE1
CLNDBN Congenital long QT syndrome not specified
Reversed 1
HGVS NC_000021.8:g.35821734G>A
CLNSRC ClinVar
CLNACC RCV000119072.1, RCV000156530.1,