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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
ebirs199473644
HLIrs199473644
Exacrs199473644
Varsomers199473644
Maprs199473644
PheGenIrs199473644
hapmaprs199473644
1000 genomesrs199473644
hgdprs199473644
ensemblrs199473644
gopubmedrs199473644
geneviewrs199473644
scholarrs199473644
googlers199473644
pharmgkbrs199473644
gwascentralrs199473644
openSNPrs199473644
23andMers199473644
23andMe allrs199473644
SNP Nexus

SNPshotrs199473644
SNPdbers199473644
MSV3drs199473644
GWAS Ctlgrs199473644
Max Magnitude0
ClinVar
Risk rs199473644(A;A)
Alt rs199473644(A;A)
Reference rs199473644(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not specified
Variation info
Gene KCNE1
CLNDBN Congenital long QT syndrome not specified
Reversed 1
HGVS NC_000021.8:g.35821770C>T
CLNSRC ClinVar
CLNACC RCV000119069.1, RCV000150858.1,