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rs397508129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGCGGTGAACGAGTCAGGC;CGCGGTGAACGAGTCAGGC) 0 common in clinvar
(GTGAACGAGTCAGGCCGCG;GTGAACGAGTCAGGCCGCG) 0 common in clinvar
Make rs397508129(-;-)
Make rs397508129(-;GTGAACGAGTCAGGCCGCG)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572927
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508129
dbSNP (old)rs397508129
ClinGenrs397508129
ebirs397508129
HLIrs397508129
Exacrs397508129
Gnomadrs397508129
Varsomers397508129
Maprs397508129
PheGenIrs397508129
Biobankrs397508129
1000 genomesrs397508129
hgdprs397508129
ensemblrs397508129
gopubmedrs397508129
geneviewrs397508129
scholarrs397508129
googlers397508129
pharmgkbrs397508129
gwascentralrs397508129
openSNPrs397508129
23andMers397508129
23andMe allrs397508129
SNP Nexus

SNPshotrs397508129
SNPdbers397508129
MSV3drs397508129
GWAS Ctlgrs397508129
Max Magnitude0
ClinVar
Risk rs397508129(-;-)
Alt rs397508129(-;-)
Reference Rs397508129(CGCGGTGAACGAGTCAGGC;CGCGGTGAACGAGTCAGGC)
Significance Pathogenic
Disease Long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype not provided
Reversed 0
HGVS NC_000011.9:g.2594157_2594175del19
CLNSRC ClinVar
CLNACC RCV000046145.2, RCV000182271.2,