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rs199473360

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473360(A;A)
Make rs199473360(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449388
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473360
ebirs199473360
HLIrs199473360
Exacrs199473360
Varsomers199473360
Maprs199473360
PheGenIrs199473360
hapmaprs199473360
1000 genomesrs199473360
hgdprs199473360
ensemblrs199473360
gopubmedrs199473360
geneviewrs199473360
scholarrs199473360
googlers199473360
pharmgkbrs199473360
gwascentralrs199473360
openSNPrs199473360
23andMers199473360
23andMe allrs199473360
SNP Nexus

SNPshotrs199473360
SNPdbers199473360
MSV3drs199473360
GWAS Ctlgrs199473360
Max Magnitude0
ClinVar
Risk rs199473360(A;A)
Alt rs199473360(A;A)
Reference rs199473360(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.35821686C>T
CLNSRC ClinVar
CLNACC RCV000119085.1,