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rs199473459

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473459(C;C)
Make rs199473459(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572071
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473459
dbSNP (classic)rs199473459
ClinGenrs199473459
ebirs199473459
HLIrs199473459
Exacrs199473459
Gnomadrs199473459
Varsomers199473459
LitVarrs199473459
Maprs199473459
PheGenIrs199473459
Biobankrs199473459
1000 genomesrs199473459
hgdprs199473459
ensemblrs199473459
geneviewrs199473459
scholarrs199473459
googlers199473459
pharmgkbrs199473459
gwascentralrs199473459
openSNPrs199473459
23andMers199473459
SNPshotrs199473459
SNPdbers199473459
MSV3drs199473459
GWAS Ctlgrs199473459
Max Magnitude0
ClinVar
Risk rs199473459(C;C)
Alt rs199473459(C;C)
Reference Rs199473459(T;T)
Significance 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.2593301T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000057744.3, RCV000182105.1,