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rs397508117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397508117(-;-)
Make rs397508117(-;G)
Make rs397508117(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2570717
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508117
ebirs397508117
HLIrs397508117
Exacrs397508117
Varsomers397508117
Maprs397508117
PheGenIrs397508117
hapmaprs397508117
1000 genomesrs397508117
hgdprs397508117
ensemblrs397508117
gopubmedrs397508117
geneviewrs397508117
scholarrs397508117
googlers397508117
pharmgkbrs397508117
gwascentralrs397508117
openSNPrs397508117
23andMers397508117
23andMe allrs397508117
SNP Nexus

SNPshotrs397508117
SNPdbers397508117
MSV3drs397508117
GWAS Ctlgrs397508117
Max Magnitude0
ClinVar
Risk rs397508117(G;G)
Alt rs397508117(G;G)
Reference rs397508117(;)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 1 Long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1 Long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2591947dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003273.2, RCV000046086.4, RCV000182266.2,