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rs199472775

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472775(A;T)
Make rs199472775(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2587619
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472775
dbSNP (classic)rs199472775
ClinGenrs199472775
ebirs199472775
HLIrs199472775
Exacrs199472775
Gnomadrs199472775
Varsomers199472775
LitVarrs199472775
Maprs199472775
PheGenIrs199472775
Biobankrs199472775
1000 genomesrs199472775
hgdprs199472775
ensemblrs199472775
geneviewrs199472775
scholarrs199472775
googlers199472775
pharmgkbrs199472775
gwascentralrs199472775
openSNPrs199472775
23andMers199472775
SNPshotrs199472775
SNPdbers199472775
MSV3drs199472775
GWAS Ctlgrs199472775
Max Magnitude0
ClinVar
Risk rs199472775(T;T)
Alt rs199472775(T;T)
Reference Rs199472775(A;A)
Significance Probable-Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2608849A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000045973.3, RCV000057569.3, RCV000218718.1,