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rs199473647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473647(A;A)
Make rs199473647(A;C)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449256
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473647
ebirs199473647
HLIrs199473647
Exacrs199473647
Varsomers199473647
Maprs199473647
PheGenIrs199473647
hapmaprs199473647
1000 genomesrs199473647
hgdprs199473647
ensemblrs199473647
gopubmedrs199473647
geneviewrs199473647
scholarrs199473647
googlers199473647
pharmgkbrs199473647
gwascentralrs199473647
openSNPrs199473647
23andMers199473647
23andMe allrs199473647
SNP Nexus

SNPshotrs199473647
SNPdbers199473647
MSV3drs199473647
GWAS Ctlgrs199473647
Max Magnitude0
ClinVar
Risk rs199473647(A;A)
Alt rs199473647(A;A)
Reference rs199473647(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.35821554G>T
CLNSRC ClinVar
CLNACC RCV000119092.1,