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rs199473470

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473470(A;A)
Make rs199473470(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583472
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473470
ebirs199473470
HLIrs199473470
Exacrs199473470
Varsomers199473470
Maprs199473470
PheGenIrs199473470
hapmaprs199473470
1000 genomesrs199473470
hgdprs199473470
ensemblrs199473470
gopubmedrs199473470
geneviewrs199473470
scholarrs199473470
googlers199473470
pharmgkbrs199473470
gwascentralrs199473470
openSNPrs199473470
23andMers199473470
23andMe allrs199473470
SNP Nexus

SNPshotrs199473470
SNPdbers199473470
MSV3drs199473470
GWAS Ctlgrs199473470
Max Magnitude0
ClinVar
Risk rs199473470(A;A)
Alt rs199473470(A;A)
Reference rs199473470(C;C)
Significance Probable-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.2604702C>A
CLNSRC ClinVar
CLNACC RCV000046180.2, RCV000057828.2,