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rs199472806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472806(C;C)
Make rs199472806(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2777003
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472806
ebirs199472806
HLIrs199472806
Exacrs199472806
Varsomers199472806
Maprs199472806
PheGenIrs199472806
hapmaprs199472806
1000 genomesrs199472806
hgdprs199472806
ensemblrs199472806
gopubmedrs199472806
geneviewrs199472806
scholarrs199472806
googlers199472806
pharmgkbrs199472806
gwascentralrs199472806
openSNPrs199472806
23andMers199472806
23andMe allrs199472806
SNP Nexus

SNPshotrs199472806
SNPdbers199472806
MSV3drs199472806
GWAS Ctlgrs199472806
Max Magnitude0
ClinVar
Risk rs199472806(C;C)
Alt rs199472806(C;C)
Reference rs199472806(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Long QT syndrome 1
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome 1
Reversed 0
HGVS NC_000011.9:g.2798233G>C
CLNSRC ClinVar
CLNACC RCV000046019.2, RCV000057623.2, RCV000239705.1,