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rs16991652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs16991652(C;G)
Make rs16991652(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position34370503
GeneKCNE2
is asnp
is mentioned by
dbSNPrs16991652
ebirs16991652
HLIrs16991652
Exacrs16991652
Varsomers16991652
Maprs16991652
PheGenIrs16991652
hapmaprs16991652
1000 genomesrs16991652
hgdprs16991652
ensemblrs16991652
gopubmedrs16991652
geneviewrs16991652
scholarrs16991652
googlers16991652
pharmgkbrs16991652
gwascentralrs16991652
openSNPrs16991652
23andMers16991652
23andMe allrs16991652
SNP Nexus

SNPshotrs16991652
SNPdbers16991652
MSV3drs16991652
GWAS Ctlgrs16991652
GMAF0.003673
Max Magnitude0
OMIM603796
Desc
Variant0001
Relatedalso
ClinVar
Risk rs16991652(G;G)
Alt rs16991652(G;G)
Reference rs16991652(C;C)
Significance Other
Disease Long QT syndrome 6 not provided not specified Long QT syndrome 6
Variation info
Gene KCNE2
CLNDBN Long QT syndrome 6, acquired, susceptibility to not provided not specified Long QT syndrome 6
Reversed 0
HGVS NC_000021.8:g.35742802C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006424.2, RCV000058370.4, RCV000170567.2, RCV000230885.1,


[PMID 10219239] MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.


[PMID 14661677] Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.


[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.


[PMID 17210839] Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.


[PMID 20981092OA-icon.png] A map of human genome variation from population-scale sequencing.