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rs387906290

From SNPedia

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


Make rs387906290(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position2583434
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs387906290
dbSNP (classic)rs387906290
ClinGenrs387906290
ebirs387906290
HLIrs387906290
Exacrs387906290
Gnomadrs387906290
Varsomers387906290
LitVarrs387906290
Maprs387906290
PheGenIrs387906290
Biobankrs387906290
1000 genomesrs387906290
hgdprs387906290
ensemblrs387906290
geneviewrs387906290
scholarrs387906290
googlers387906290
pharmgkbrs387906290
gwascentralrs387906290
openSNPrs387906290
23andMers387906290
SNPshotrs387906290
SNPdbers387906290
MSV3drs387906290
GWAS Ctlgrs387906290
Max Magnitude5
ClinVar
Risk rs387906290(A;A) rs387906290(C;C)
Alt rs387906290(A;A) rs387906290(C;C)
Reference Rs387906290(G;G)
Significance Pathogenic
Disease not provided Long QT syndrome 1 Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN not provided Long QT syndrome 1 Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2604664G>A; NC_000011.9:g.2604664G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412764.1, RCV000003282.2, RCV000046158.2,