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rs199473452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473452(C;G)
Make rs199473452(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2527990
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473452
ebirs199473452
HLIrs199473452
Exacrs199473452
Varsomers199473452
Maprs199473452
PheGenIrs199473452
hapmaprs199473452
1000 genomesrs199473452
hgdprs199473452
ensemblrs199473452
gopubmedrs199473452
geneviewrs199473452
scholarrs199473452
googlers199473452
pharmgkbrs199473452
gwascentralrs199473452
openSNPrs199473452
23andMers199473452
23andMe allrs199473452
SNP Nexus

SNPshotrs199473452
SNPdbers199473452
MSV3drs199473452
GWAS Ctlgrs199473452
Max Magnitude0
ClinVar
Risk rs199473452(G;G)
Alt rs199473452(G;G)
Reference rs199473452(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2549220C>G
CLNSRC ClinVar
CLNACC RCV000046058.2, RCV000057678.2,