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rs199472807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472807(A;A)
Make rs199472807(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2777002
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472807
ebirs199472807
HLIrs199472807
Exacrs199472807
Varsomers199472807
Maprs199472807
PheGenIrs199472807
hapmaprs199472807
1000 genomesrs199472807
hgdprs199472807
ensemblrs199472807
gopubmedrs199472807
geneviewrs199472807
scholarrs199472807
googlers199472807
pharmgkbrs199472807
gwascentralrs199472807
openSNPrs199472807
23andMers199472807
23andMe allrs199472807
SNP Nexus

SNPshotrs199472807
SNPdbers199472807
MSV3drs199472807
GWAS Ctlgrs199472807
Max Magnitude0
ClinVar
Risk rs199472807(A;A)
Alt rs199472807(A;A)
Reference rs199472807(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.2798232G>A
CLNSRC ClinVar
CLNACC RCV000046018.2, RCV000057622.2,