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rs17846179

From SNPedia

Merged intors1805127
Orientationminus
Stabilizedplus
Geno Mag Summary
(C;T) 0
Make rs17846179(C;C)
Make rs17846179(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position34449523
GeneKCNE1
is asnp
is mentioned by
dbSNPrs17846179
ebirs17846179
HLIrs17846179
Exacrs17846179
Varsomers17846179
Maprs17846179
PheGenIrs17846179
hapmaprs17846179
1000 genomesrs17846179
hgdprs17846179
ensemblrs17846179
gopubmedrs17846179
geneviewrs17846179
scholarrs17846179
googlers17846179
pharmgkbrs17846179
gwascentralrs17846179
openSNPrs17846179
23andMers17846179
23andMe allrs17846179
SNP Nexus

SNPshotrs17846179
SNPdbers17846179
MSV3drs17846179
GWAS Ctlgrs17846179
StatusMerged into rs1805127
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene KCNE1
allele C
frequency
sift TOLERATED
HuRef 1103643111453
Disease Association Defects in KCNE1 are the cause of long QT syndrome type 5 (LQT5) (MIM:176261). Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. KCNE1 mutants form channels that open slowly and close rapidly, thereby diminishing potassium currents.



Neighborrs28933384
Distance92


GET Evidence
KCNE1-S38G
aa_change Ser38Gly
aa_change_short S38G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.657557
summary