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rs199473406

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473406(A;G)
Make rs199473406(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2585257
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473406
dbSNP (classic)rs199473406
ClinGenrs199473406
ebirs199473406
HLIrs199473406
Exacrs199473406
Gnomadrs199473406
Varsomers199473406
LitVarrs199473406
Maprs199473406
PheGenIrs199473406
Biobankrs199473406
1000 genomesrs199473406
hgdprs199473406
ensemblrs199473406
geneviewrs199473406
scholarrs199473406
googlers199473406
pharmgkbrs199473406
gwascentralrs199473406
openSNPrs199473406
23andMers199473406
SNPshotrs199473406
SNPdbers199473406
MSV3drs199473406
GWAS Ctlgrs199473406
Max Magnitude0
ClinVar
Risk rs199473406(G;G) rs199473406(T;T)
Alt rs199473406(G;G) rs199473406(T;T)
Reference Rs199473406(A;A)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2606487A>G; NC_000011.9:g.2606487A>T
CLNSRC ClinVar
CLNACC RCV000057545.3, RCV000182170.2,