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rs199473351

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473351(A;A)
Make rs199473351(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449528
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473351
ebirs199473351
HLIrs199473351
Exacrs199473351
Varsomers199473351
Maprs199473351
PheGenIrs199473351
hapmaprs199473351
1000 genomesrs199473351
hgdprs199473351
ensemblrs199473351
gopubmedrs199473351
geneviewrs199473351
scholarrs199473351
googlers199473351
pharmgkbrs199473351
gwascentralrs199473351
openSNPrs199473351
23andMers199473351
23andMe allrs199473351
SNP Nexus

SNPshotrs199473351
SNPdbers199473351
MSV3drs199473351
GWAS Ctlgrs199473351
Max Magnitude0
ClinVar
Risk rs199473351(A;A)
Alt rs199473351(A;A)
Reference rs199473351(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.35821826C>T
CLNSRC ClinVar
CLNACC RCV000119062.1,