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rs199472686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472686(G;T)
Make rs199472686(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2527948
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472686
ebirs199472686
HLIrs199472686
Exacrs199472686
Varsomers199472686
Maprs199472686
PheGenIrs199472686
hapmaprs199472686
1000 genomesrs199472686
hgdprs199472686
ensemblrs199472686
gopubmedrs199472686
geneviewrs199472686
scholarrs199472686
googlers199472686
pharmgkbrs199472686
gwascentralrs199472686
openSNPrs199472686
23andMers199472686
23andMe allrs199472686
SNP Nexus

SNPshotrs199472686
SNPdbers199472686
MSV3drs199472686
GWAS Ctlgrs199472686
Max Magnitude0
ClinVar
Risk rs199472686(T;T)
Alt rs199472686(T;T)
Reference rs199472686(G;G)
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.2549178G>T
CLNSRC ClinVar
CLNACC RCV000046055.2, RCV000057670.2,