Have questions? Visit https://www.reddit.com/r/SNPedia

rs199472747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472747(C;T)
Make rs199472747(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583452
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472747
ebirs199472747
HLIrs199472747
Exacrs199472747
Varsomers199472747
Maprs199472747
PheGenIrs199472747
hapmaprs199472747
1000 genomesrs199472747
hgdprs199472747
ensemblrs199472747
gopubmedrs199472747
geneviewrs199472747
scholarrs199472747
googlers199472747
pharmgkbrs199472747
gwascentralrs199472747
openSNPrs199472747
23andMers199472747
23andMe allrs199472747
SNP Nexus

SNPshotrs199472747
SNPdbers199472747
MSV3drs199472747
GWAS Ctlgrs199472747
Max Magnitude0
ClinVar
Risk rs199472747(G,T;G,T)
Alt rs199472747(G,T;G,T)
Reference rs199472747(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.2604682C>G
CLNSRC ClinVar
CLNACC RCV000046166.2, RCV000057809.2,