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rs199473671

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473671(A;A)
Make rs199473671(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445234
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473671
ebirs199473671
HLIrs199473671
Exacrs199473671
Varsomers199473671
Maprs199473671
PheGenIrs199473671
hapmaprs199473671
1000 genomesrs199473671
hgdprs199473671
ensemblrs199473671
gopubmedrs199473671
geneviewrs199473671
scholarrs199473671
googlers199473671
pharmgkbrs199473671
gwascentralrs199473671
openSNPrs199473671
23andMers199473671
23andMe allrs199473671
SNP Nexus

SNPshotrs199473671
SNPdbers199473671
MSV3drs199473671
GWAS Ctlgrs199473671
Max Magnitude0
ClinVar
Risk rs199473671(A;A)
Alt rs199473671(A;A)
Reference rs199473671(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not specified not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not specified not provided
Reversed 0
HGVS NC_000011.9:g.2466464G>A
CLNSRC ClinVar
CLNACC RCV000045986.2, RCV000057585.2, RCV000182238.2, RCV000223932.1,