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rs199472699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472699(C;C)
Make rs199472699(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570730
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472699
ebirs199472699
HLIrs199472699
Exacrs199472699
Varsomers199472699
Maprs199472699
PheGenIrs199472699
hapmaprs199472699
1000 genomesrs199472699
hgdprs199472699
ensemblrs199472699
gopubmedrs199472699
geneviewrs199472699
scholarrs199472699
googlers199472699
pharmgkbrs199472699
gwascentralrs199472699
openSNPrs199472699
23andMers199472699
23andMe allrs199472699
SNP Nexus

SNPshotrs199472699
SNPdbers199472699
MSV3drs199472699
GWAS Ctlgrs199472699
Max Magnitude0
ClinVar
Risk rs199472699(C;C)
Alt rs199472699(C;C)
Reference rs199472699(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.2591960G>C
CLNSRC ClinVar
CLNACC RCV000046094.2, RCV000057712.2, RCV000223826.1,