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rs199473356

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473356(C;C)
Make rs199473356(C;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449425
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473356
ebirs199473356
HLIrs199473356
Exacrs199473356
Varsomers199473356
Maprs199473356
PheGenIrs199473356
hapmaprs199473356
1000 genomesrs199473356
hgdprs199473356
ensemblrs199473356
gopubmedrs199473356
geneviewrs199473356
scholarrs199473356
googlers199473356
pharmgkbrs199473356
gwascentralrs199473356
openSNPrs199473356
23andMers199473356
23andMe allrs199473356
SNP Nexus

SNPshotrs199473356
SNPdbers199473356
MSV3drs199473356
GWAS Ctlgrs199473356
Max Magnitude0
ClinVar
Risk rs199473356(C;C)
Alt rs199473356(C;C)
Reference rs199473356(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.35821723C>G
CLNSRC ClinVar
CLNACC RCV000119077.1,