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rs199473359

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473359(A;T)
Make rs199473359(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449393
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473359
ebirs199473359
HLIrs199473359
Exacrs199473359
Varsomers199473359
Maprs199473359
PheGenIrs199473359
hapmaprs199473359
1000 genomesrs199473359
hgdprs199473359
ensemblrs199473359
gopubmedrs199473359
geneviewrs199473359
scholarrs199473359
googlers199473359
pharmgkbrs199473359
gwascentralrs199473359
openSNPrs199473359
23andMers199473359
23andMe allrs199473359
SNP Nexus

SNPshotrs199473359
SNPdbers199473359
MSV3drs199473359
GWAS Ctlgrs199473359
Max Magnitude0
ClinVar
Risk rs199473359(G,T;G,T)
Alt rs199473359(G,T;G,T)
Reference rs199473359(A;A)
Significance Pathogenic
Disease not provided Congenital long QT syndrome
Variation info
Gene KCNE1
CLNDBN not provided Congenital long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821691T>A; NC_000021.8:g.35821691T>C
CLNSRC ClinVar
CLNACC RCV000119084.3, RCV000119083.1,