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rs199472722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472722(C;C)
Make rs199472722(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572846
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472722
ebirs199472722
HLIrs199472722
Exacrs199472722
Varsomers199472722
Maprs199472722
PheGenIrs199472722
hapmaprs199472722
1000 genomesrs199472722
hgdprs199472722
ensemblrs199472722
gopubmedrs199472722
geneviewrs199472722
scholarrs199472722
googlers199472722
pharmgkbrs199472722
gwascentralrs199472722
openSNPrs199472722
23andMers199472722
23andMe allrs199472722
SNP Nexus

SNPshotrs199472722
SNPdbers199472722
MSV3drs199472722
GWAS Ctlgrs199472722
Max Magnitude0
ClinVar
Risk rs199472722(A,C;A,C)
Alt rs199472722(A,C;A,C)
Reference rs199472722(G;G)
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.2594076G>A; NC_000011.9:g.2594076G>C
CLNSRC ClinVar
CLNACC RCV000046126.2, RCV000057758.2, RCV000057759.2,