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rs199472712

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472712(G;T)
Make rs199472712(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572053
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472712
ebirs199472712
HLIrs199472712
Exacrs199472712
Varsomers199472712
Maprs199472712
PheGenIrs199472712
hapmaprs199472712
1000 genomesrs199472712
hgdprs199472712
ensemblrs199472712
gopubmedrs199472712
geneviewrs199472712
scholarrs199472712
googlers199472712
pharmgkbrs199472712
gwascentralrs199472712
openSNPrs199472712
23andMers199472712
23andMe allrs199472712
SNP Nexus

SNPshotrs199472712
SNPdbers199472712
MSV3drs199472712
GWAS Ctlgrs199472712
Max Magnitude0
ClinVar
Risk rs199472712(A,T;A,T)
Alt rs199472712(A,T;A,T)
Reference rs199472712(G;G)
Significance Other
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2593283G>A; NC_000011.9:g.2593283G>T
CLNSRC ClinVar
CLNACC RCV000046110.2, RCV000057738.2, RCV000182103.2, RCV000057739.2, RCV000182104.2,