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rs199473648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473648(C;T)
Make rs199473648(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34370507
GeneKCNE2
is asnp
is mentioned by
dbSNPrs199473648
ebirs199473648
HLIrs199473648
Exacrs199473648
Varsomers199473648
Maprs199473648
PheGenIrs199473648
hapmaprs199473648
1000 genomesrs199473648
hgdprs199473648
ensemblrs199473648
gopubmedrs199473648
geneviewrs199473648
scholarrs199473648
googlers199473648
pharmgkbrs199473648
gwascentralrs199473648
openSNPrs199473648
23andMers199473648
23andMe allrs199473648
SNP Nexus

SNPshotrs199473648
SNPdbers199473648
MSV3drs199473648
GWAS Ctlgrs199473648
Max Magnitude0
ClinVar
Risk rs199473648(T;T)
Alt rs199473648(T;T)
Reference rs199473648(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Long QT syndrome not specified
Variation info
Gene KCNE2
CLNDBN Congenital long QT syndrome not provided Long QT syndrome not specified
Reversed 0
HGVS NC_000021.8:g.35742806C>T
CLNSRC ClinVar
CLNACC RCV000058373.2, RCV000170953.3, RCV000171565.1, RCV000218738.1,