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rs199472720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472720(G;T)
Make rs199472720(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572105
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472720
ebirs199472720
HLIrs199472720
Exacrs199472720
Varsomers199472720
Maprs199472720
PheGenIrs199472720
hapmaprs199472720
1000 genomesrs199472720
hgdprs199472720
ensemblrs199472720
gopubmedrs199472720
geneviewrs199472720
scholarrs199472720
googlers199472720
pharmgkbrs199472720
gwascentralrs199472720
openSNPrs199472720
23andMers199472720
23andMe allrs199472720
SNP Nexus

SNPshotrs199472720
SNPdbers199472720
MSV3drs199472720
GWAS Ctlgrs199472720
Max Magnitude0
ClinVar
Risk rs199472720(A,T;A,T)
Alt rs199472720(A,T;A,T)
Reference rs199472720(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2593335G>A; NC_000011.9:g.2593335G>T
CLNSRC ClinVar
CLNACC RCV000046124.2, RCV000057756.2, RCV000182113.2, RCV000046125.2, RCV000057757.2, RCV000182114.2,