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rs199473644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473644(A;A)
Make rs199473644(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449472
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473644
dbSNP (classic)rs199473644
ClinGenrs199473644
ebirs199473644
HLIrs199473644
Exacrs199473644
Gnomadrs199473644
Varsomers199473644
LitVarrs199473644
Maprs199473644
PheGenIrs199473644
Biobankrs199473644
1000 genomesrs199473644
hgdprs199473644
ensemblrs199473644
geneviewrs199473644
scholarrs199473644
googlers199473644
pharmgkbrs199473644
gwascentralrs199473644
openSNPrs199473644
23andMers199473644
SNPshotrs199473644
SNPdbers199473644
MSV3drs199473644
GWAS Ctlgrs199473644
Max Magnitude0
ClinVar
Risk rs199473644(A;A)
Alt rs199473644(A;A)
Reference Rs199473644(G;G)
Significance Untested
Disease Congenital long QT syndrome not specified Long QT syndrome
Variation info
Gene KCNE1B KCNE1
CLNDBN Congenital long QT syndrome not specified Long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821770C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000119069.2, RCV000150858.1, RCV000463748.1,