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rs199473464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473464(A;A)
Make rs199473464(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572933
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473464
dbSNP (classic)rs199473464
ClinGenrs199473464
ebirs199473464
HLIrs199473464
Exacrs199473464
Gnomadrs199473464
Varsomers199473464
LitVarrs199473464
Maprs199473464
PheGenIrs199473464
Biobankrs199473464
1000 genomesrs199473464
hgdprs199473464
ensemblrs199473464
geneviewrs199473464
scholarrs199473464
googlers199473464
pharmgkbrs199473464
gwascentralrs199473464
openSNPrs199473464
23andMers199473464
SNPshotrs199473464
SNPdbers199473464
MSV3drs199473464
GWAS Ctlgrs199473464
Max Magnitude0
ClinVar
Risk rs199473464(A;A)
Alt rs199473464(A;A)
Reference Rs199473464(G;G)
Significance Untested
Disease Long QT syndrome Congenital long QT syndrome not specified
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not specified
Reversed 0
HGVS NC_000011.9:g.2594163G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000046146.2, RCV000057783.3, RCV000455757.1,