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rs1805128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1805128(A;A)
Make rs1805128(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449382
GeneKCNE1
is asnp
is mentioned by
dbSNPrs1805128
ebirs1805128
HLIrs1805128
Exacrs1805128
Varsomers1805128
Maprs1805128
PheGenIrs1805128
hapmaprs1805128
1000 genomesrs1805128
hgdprs1805128
ensemblrs1805128
gopubmedrs1805128
geneviewrs1805128
scholarrs1805128
googlers1805128
pharmgkbrs1805128
gwascentralrs1805128
openSNPrs1805128
23andMers1805128
23andMe allrs1805128
SNP Nexus

SNPshotrs1805128
SNPdbers1805128
MSV3drs1805128
GWAS Ctlgrs1805128
GMAF0.005051
Max Magnitude0
? (A;A) (A;G) (G;G) 28

23andMe blog Influences QT interval

OMIM176261
DescPOTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;
Variant
Relatedalso


OMIM176261
Desc
Variant0005
Relatedalso
[PMID 22100668OA-icon.png] A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes


ClinVar
Risk rs1805128(A;A)
Alt rs1805128(A;A)
Reference rs1805128(G;G)
Significance Other
Disease Long QT syndrome 5 Long QT syndrome 2/5 not specified not provided Long QT syndrome
Variation info
Gene KCNE1
CLNDBN Long QT syndrome 5, acquired, susceptibility to Long QT syndrome 2/5 not specified not provided Long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821680C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014422.2, RCV000014423.25, RCV000035353.5, RCV000057858.3, RCV000157255.9,



[PMID 19019189OA-icon.png] Common candidate gene variants are associated with QT interval duration in the general population.


[PMID 19305408OA-icon.png] Common variants at ten loci influence QT interval duration in the QTGEN Study.


[PMID 19530973OA-icon.png] Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias.


[PMID 19587794OA-icon.png] Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.


[PMID 150516] VE, threat of controls slow spending.


[PMID 9445165] Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.


[PMID 10807545] Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.


[PMID 12402336] DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.


[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.