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rs1800171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Romano-Ward Long QT Syndrome
(G;G) 0 common in clinvar
(G;T) 5 Romano-Ward Long QT Syndrome
Make rs1800171(C;C)
Make rs1800171(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2583545
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs1800171
dbSNP (classic)rs1800171
ClinGenrs1800171
ebirs1800171
HLIrs1800171
Exacrs1800171
Gnomadrs1800171
Varsomers1800171
LitVarrs1800171
Maprs1800171
PheGenIrs1800171
Biobankrs1800171
1000 genomesrs1800171
hgdprs1800171
ensemblrs1800171
geneviewrs1800171
scholarrs1800171
googlers1800171
pharmgkbrs1800171
gwascentralrs1800171
openSNPrs1800171
23andMers1800171
SNPshotrs1800171
SNPdbers1800171
MSV3drs1800171
GWAS Ctlgrs1800171
Max Magnitude5
ClinVar
Risk rs1800171(A;A) rs1800171(C;C)
Alt rs1800171(A;A) rs1800171(C;C)
Reference Rs1800171(G;G)
Significance Pathogenic
Disease Long QT syndrome 1 Long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Long QT syndrome not provided Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2604775G>A; NC_000011.9:g.2604775G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003283.4, RCV000045941.4, RCV000182159.3, RCV000045942.2, RCV000182160.1,