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rs587776555

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCCGCGCCC;GCCGCGCCC) 0 common in clinvar
Make rs587776555(-;-)
Make rs587776555(-;GCCGCGCCC)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445309
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs587776555
dbSNP (classic)rs587776555
ClinGenrs587776555
ebirs587776555
HLIrs587776555
Exacrs587776555
Gnomadrs587776555
Varsomers587776555
LitVarrs587776555
Maprs587776555
PheGenIrs587776555
Biobankrs587776555
1000 genomesrs587776555
hgdprs587776555
ensemblrs587776555
geneviewrs587776555
scholarrs587776555
googlers587776555
pharmgkbrs587776555
gwascentralrs587776555
openSNPrs587776555
23andMers587776555
SNPshotrs587776555
SNPdbers587776555
MSV3drs587776555
GWAS Ctlgrs587776555
Max Magnitude0
ClinVar
Risk rs587776555(-;-)
Alt rs587776555(-;-)
Reference Rs587776555(GCCGCGCCC;GCCGCGCCC)
Significance Pathogenic
Disease Long QT syndrome 1
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1
Reversed 0
HGVS NC_000011.9:g.2466539_2466547delGCCGCGCCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003278.2,