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rs199473348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473348(C;T)
Make rs199473348(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449612
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473348
ebirs199473348
HLIrs199473348
Exacrs199473348
Varsomers199473348
Maprs199473348
PheGenIrs199473348
hapmaprs199473348
1000 genomesrs199473348
hgdprs199473348
ensemblrs199473348
gopubmedrs199473348
geneviewrs199473348
scholarrs199473348
googlers199473348
pharmgkbrs199473348
gwascentralrs199473348
openSNPrs199473348
23andMers199473348
23andMe allrs199473348
SNP Nexus

SNPshotrs199473348
SNPdbers199473348
MSV3drs199473348
GWAS Ctlgrs199473348
Max Magnitude0
ClinVar
Risk rs199473348(A,T;A,T)
Alt rs199473348(A,T;A,T)
Reference rs199473348(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome
Variation info
Gene KCNE1
CLNDBN Congenital long QT syndrome Long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821910G>A
CLNSRC ClinVar University of Washington
CLNACC RCV000119082.1, RCV000148516.1,