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rs199472723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472723(C;G)
Make rs199472723(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572849
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472723
ebirs199472723
HLIrs199472723
Exacrs199472723
Varsomers199472723
Maprs199472723
PheGenIrs199472723
hapmaprs199472723
1000 genomesrs199472723
hgdprs199472723
ensemblrs199472723
gopubmedrs199472723
geneviewrs199472723
scholarrs199472723
googlers199472723
pharmgkbrs199472723
gwascentralrs199472723
openSNPrs199472723
23andMers199472723
23andMe allrs199472723
SNP Nexus

SNPshotrs199472723
SNPdbers199472723
MSV3drs199472723
GWAS Ctlgrs199472723
Max Magnitude0
ClinVar
Risk rs199472723(G;G)
Alt rs199472723(G;G)
Reference rs199472723(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.2594079C>G
CLNSRC ClinVar
CLNACC RCV000046128.2, RCV000057761.2,