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rs397508134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
(I;I) 0 common genotype
(TC;TC) 0 common in clinvar
Make rs397508134(-;-)
Make rs397508134(-;CT)
ReferenceGRCh38 38.1/141
Chromosome11
Position2583511
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508134
dbSNP (classic)rs397508134
ClinGenrs397508134
ebirs397508134
HLIrs397508134
Exacrs397508134
Gnomadrs397508134
Varsomers397508134
LitVarrs397508134
Maprs397508134
PheGenIrs397508134
Biobankrs397508134
1000 genomesrs397508134
hgdprs397508134
ensemblrs397508134
geneviewrs397508134
scholarrs397508134
googlers397508134
pharmgkbrs397508134
gwascentralrs397508134
openSNPrs397508134
23andMers397508134
SNPshotrs397508134
SNPdbers397508134
MSV3drs397508134
GWAS Ctlgrs397508134
Max Magnitude0
ClinVar
Risk rs397508134(-;-)
Alt rs397508134(-;-)
Reference Rs397508134(TC;TC)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 1 not provided
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1 not provided
Reversed 0
HGVS NC_000011.9:g.2604741_2604742delCT
CLNSRC ClinVar
CLNACC RCV000046185.2, RCV000182273.1,