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rs199473362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473362(C;T)
Make rs199473362(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449343
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473362
ebirs199473362
HLIrs199473362
Exacrs199473362
Varsomers199473362
Maprs199473362
PheGenIrs199473362
hapmaprs199473362
1000 genomesrs199473362
hgdprs199473362
ensemblrs199473362
gopubmedrs199473362
geneviewrs199473362
scholarrs199473362
googlers199473362
pharmgkbrs199473362
gwascentralrs199473362
openSNPrs199473362
23andMers199473362
23andMe allrs199473362
SNP Nexus

SNPshotrs199473362
SNPdbers199473362
MSV3drs199473362
GWAS Ctlgrs199473362
Max Magnitude0
ClinVar
Risk rs199473362(A,G,T;A,G,T)
Alt rs199473362(A,G,T;A,G,T)
Reference rs199473362(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not specified
Variation info
Gene KCNE1
CLNDBN Congenital long QT syndrome Long QT syndrome not specified
Reversed 1
HGVS NC_000021.8:g.35821641G>A; NC_000021.8:g.35821641G>C
CLNSRC ClinVar
CLNACC RCV000119088.1, RCV000171560.1, RCV000222068.1,