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rs199473661

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 Romano-Ward Long QT Syndrome
(T;T) 0 common in clinvar


Make rs199473661(C;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570700
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473661
dbSNP (classic)rs199473661
ClinGenrs199473661
ebirs199473661
HLIrs199473661
Exacrs199473661
Gnomadrs199473661
Varsomers199473661
LitVarrs199473661
Maprs199473661
PheGenIrs199473661
Biobankrs199473661
1000 genomesrs199473661
hgdprs199473661
ensemblrs199473661
geneviewrs199473661
scholarrs199473661
googlers199473661
pharmgkbrs199473661
gwascentralrs199473661
openSNPrs199473661
23andMers199473661
SNPshotrs199473661
SNPdbers199473661
MSV3drs199473661
GWAS Ctlgrs199473661
Max Magnitude5
ClinVar
Risk rs199473661(C;C) rs199473661(G;G)
Alt rs199473661(C;C) rs199473661(G;G)
Reference Rs199473661(T;T)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2591930T>C; NC_000011.9:g.2591930T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000057697.3, RCV000182297.2, RCV000182083.2,