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rs199472821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472821(A;A)
Make rs199472821(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2847848
GeneKCNQ1, KCNQ1-AS1
is asnp
is mentioned by
dbSNPrs199472821
dbSNP (classic)rs199472821
ClinGenrs199472821
ebirs199472821
HLIrs199472821
Exacrs199472821
Gnomadrs199472821
Varsomers199472821
LitVarrs199472821
Maprs199472821
PheGenIrs199472821
Biobankrs199472821
1000 genomesrs199472821
hgdprs199472821
ensemblrs199472821
geneviewrs199472821
scholarrs199472821
googlers199472821
pharmgkbrs199472821
gwascentralrs199472821
openSNPrs199472821
23andMers199472821
SNPshotrs199472821
SNPdbers199472821
MSV3drs199472821
GWAS Ctlgrs199472821
Max Magnitude0
ClinVar
Risk rs199472821(A;A)
Alt rs199472821(A;A)
Reference Rs199472821(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1-AS1 KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2869078G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000046035.2, RCV000057647.3, RCV000182325.1,