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rs397515637

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGTAC;CAGTAC) 0 common in clinvar
Make rs397515637(CAGTAC;GTTGAGA)
Make rs397515637(GTTGAGA;GTTGAGA)
ReferenceGRCh38 38.1/142
Chromosome11
Position2775999
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397515637
ebirs397515637
HLIrs397515637
Exacrs397515637
Varsomers397515637
Maprs397515637
PheGenIrs397515637
hapmaprs397515637
1000 genomesrs397515637
hgdprs397515637
ensemblrs397515637
gopubmedrs397515637
geneviewrs397515637
scholarrs397515637
googlers397515637
pharmgkbrs397515637
gwascentralrs397515637
openSNPrs397515637
23andMers397515637
23andMe allrs397515637
SNP Nexus

SNPshotrs397515637
SNPdbers397515637
MSV3drs397515637
GWAS Ctlgrs397515637
Max Magnitude0
ClinVar
Risk rs397515637(GTTGAGA;GTTGAGA)
Alt rs397515637(GTTGAGA;GTTGAGA)
Reference rs397515637(CAGTAC;CAGTAC)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 1
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1
Reversed 0
HGVS NC_000011.9:g.2797229_2797234delCAGTACinsGTTGAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000003272.2,