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rs79654911

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79654911(C;T)
Make rs79654911(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449435
GeneKCNE1
is asnp
is mentioned by
dbSNPrs79654911
dbSNP (classic)rs79654911
ClinGenrs79654911
ebirs79654911
HLIrs79654911
Exacrs79654911
Gnomadrs79654911
Varsomers79654911
LitVarrs79654911
Maprs79654911
PheGenIrs79654911
Biobankrs79654911
1000 genomesrs79654911
hgdprs79654911
ensemblrs79654911
geneviewrs79654911
scholarrs79654911
googlers79654911
pharmgkbrs79654911
gwascentralrs79654911
openSNPrs79654911
23andMers79654911
SNPshotrs79654911
SNPdbers79654911
MSV3drs79654911
GWAS Ctlgrs79654911
Max Magnitude0
ClinVar
Risk rs79654911(A;A) rs79654911(T;T)
Alt rs79654911(A;A) rs79654911(T;T)
Reference Rs79654911(C;C)
Significance Probable-Pathogenic
Disease not provided Congenital long QT syndrome Long QT syndrome not specified
Variation info
Gene KCNE1B KCNE1
CLNDBN not provided Congenital long QT syndrome Long QT syndrome not specified
Reversed 0
HGVS NC_000021.8:g.35821733C>A; NC_000021.8:g.35821733C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000482361.1, RCV000119073.2, RCV000148517.1, RCV000223718.1, RCV000413332.1,