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rs199472697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472697(C;C)
Make rs199472697(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570671
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472697
ebirs199472697
HLIrs199472697
Exacrs199472697
Varsomers199472697
Maprs199472697
PheGenIrs199472697
hapmaprs199472697
1000 genomesrs199472697
hgdprs199472697
ensemblrs199472697
gopubmedrs199472697
geneviewrs199472697
scholarrs199472697
googlers199472697
pharmgkbrs199472697
gwascentralrs199472697
openSNPrs199472697
23andMers199472697
23andMe allrs199472697
SNP Nexus

SNPshotrs199472697
SNPdbers199472697
MSV3drs199472697
GWAS Ctlgrs199472697
Max Magnitude0
ClinVar
Risk rs199472697(A,C,T;A,C,T)
Alt rs199472697(A,C,T;A,C,T)
Reference rs199472697(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Cardiac arrhythmia not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome Cardiac arrhythmia not provided
Reversed 0
HGVS NC_000011.9:g.2591901G>A; NC_000011.9:g.2591901G>C; NC_000011.9:g.2591901G>T
CLNSRC ClinVar
CLNACC RCV000046073.2, RCV000057690.2, RCV000182079.1, RCV000223741.1, RCV000046074.2, RCV000057691.2, RCV000182080.2,