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rs199473403

From SNPedia

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


Make rs199473403(C;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2585237
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473403
dbSNP (classic)rs199473403
ClinGenrs199473403
ebirs199473403
HLIrs199473403
Exacrs199473403
Gnomadrs199473403
Varsomers199473403
LitVarrs199473403
Maprs199473403
PheGenIrs199473403
Biobankrs199473403
1000 genomesrs199473403
hgdprs199473403
ensemblrs199473403
geneviewrs199473403
scholarrs199473403
googlers199473403
pharmgkbrs199473403
gwascentralrs199473403
openSNPrs199473403
23andMers199473403
SNPshotrs199473403
SNPdbers199473403
MSV3drs199473403
GWAS Ctlgrs199473403
Max Magnitude5
ClinVar
Risk rs199473403(C;C)
Alt rs199473403(C;C)
Reference Rs199473403(T;T)
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.2606467T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000045949.2, RCV000057542.3, RCV000182166.1,