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rs199473349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473349(C;T)
Make rs199473349(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449576
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473349
ebirs199473349
HLIrs199473349
Exacrs199473349
Varsomers199473349
Maprs199473349
PheGenIrs199473349
hapmaprs199473349
1000 genomesrs199473349
hgdprs199473349
ensemblrs199473349
gopubmedrs199473349
geneviewrs199473349
scholarrs199473349
googlers199473349
pharmgkbrs199473349
gwascentralrs199473349
openSNPrs199473349
23andMers199473349
23andMe allrs199473349
SNP Nexus

SNPshotrs199473349
SNPdbers199473349
MSV3drs199473349
GWAS Ctlgrs199473349
Max Magnitude0
ClinVar
Risk rs199473349(T;T)
Alt rs199473349(T;T)
Reference rs199473349(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNE1
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821874G>A
CLNSRC ClinVar
CLNACC RCV000119093.1,