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rs199473350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473350(C;T)
Make rs199473350(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449552
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473350
ebirs199473350
HLIrs199473350
Exacrs199473350
Varsomers199473350
Maprs199473350
PheGenIrs199473350
hapmaprs199473350
1000 genomesrs199473350
hgdprs199473350
ensemblrs199473350
gopubmedrs199473350
geneviewrs199473350
scholarrs199473350
googlers199473350
pharmgkbrs199473350
gwascentralrs199473350
openSNPrs199473350
23andMers199473350
23andMe allrs199473350
SNP Nexus

SNPshotrs199473350
SNPdbers199473350
MSV3drs199473350
GWAS Ctlgrs199473350
Max Magnitude0
ClinVar
Risk rs199473350(T;T)
Alt rs199473350(T;T)
Reference rs199473350(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.35821850G>A
CLNSRC ClinVar
CLNACC RCV000119094.1,