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rs199472693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472693(C;G)
Make rs199472693(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570656
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472693
ebirs199472693
HLIrs199472693
Exacrs199472693
Varsomers199472693
Maprs199472693
PheGenIrs199472693
hapmaprs199472693
1000 genomesrs199472693
hgdprs199472693
ensemblrs199472693
gopubmedrs199472693
geneviewrs199472693
scholarrs199472693
googlers199472693
pharmgkbrs199472693
gwascentralrs199472693
openSNPrs199472693
23andMers199472693
23andMe allrs199472693
SNP Nexus

SNPshotrs199472693
SNPdbers199472693
MSV3drs199472693
GWAS Ctlgrs199472693
Max Magnitude0
ClinVar
Risk rs199472693(G,T;G,T)
Alt rs199472693(G,T;G,T)
Reference rs199472693(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.2591886C>G
CLNSRC ClinVar
CLNACC RCV000046069.2, RCV000057686.2,