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rs199473646

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473646(A;T)
Make rs199473646(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449426
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473646
ebirs199473646
HLIrs199473646
Exacrs199473646
Varsomers199473646
Maprs199473646
PheGenIrs199473646
hapmaprs199473646
1000 genomesrs199473646
hgdprs199473646
ensemblrs199473646
gopubmedrs199473646
geneviewrs199473646
scholarrs199473646
googlers199473646
pharmgkbrs199473646
gwascentralrs199473646
openSNPrs199473646
23andMers199473646
23andMe allrs199473646
SNP Nexus

SNPshotrs199473646
SNPdbers199473646
MSV3drs199473646
GWAS Ctlgrs199473646
Max Magnitude0
ClinVar
Risk rs199473646(T;T)
Alt rs199473646(T;T)
Reference rs199473646(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNE1
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821724T>A
CLNSRC ClinVar
CLNACC RCV000119075.1,