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rs1805123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1805123(A;C)
Make rs1805123(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position150948446
GeneKCNH2
is asnp
is mentioned by
dbSNPrs1805123
ebirs1805123
HLIrs1805123
Exacrs1805123
Varsomers1805123
Maprs1805123
PheGenIrs1805123
hapmaprs1805123
1000 genomesrs1805123
hgdprs1805123
ensemblrs1805123
gopubmedrs1805123
geneviewrs1805123
scholarrs1805123
googlers1805123
pharmgkbrs1805123
gwascentralrs1805123
openSNPrs1805123
23andMers1805123
23andMe allrs1805123
SNP Nexus

SNPshotrs1805123
SNPdbers1805123
MSV3drs1805123
GWAS Ctlgrs1805123
GMAF0.1295
Max Magnitude0
? (A;A) (A;C) (C;C) 28
[PMID 19149796OA-icon.png] Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.



[PMID 20507645OA-icon.png] Two four-marker haplotypes on 7q36.1 region indicate that the potassium channel gene HERG1 (KCNH2, Kv11.1) is related to schizophrenia: a case control study





[PMID 22690879OA-icon.png] Genetic polymorphisms for estimating risk of atrial fibrillation: a literature-based meta-analysis


ClinVar
Risk rs1805123(C,T;C,T)
Alt rs1805123(C,T;C,T)
Reference rs1805123(A;A)
Significance Non-pathogenic
Disease not specified not provided Atrial fibrillation
Variation info
Gene KCNH2
CLNDBN not specified not provided Atrial fibrillation
Reversed 1
HGVS NC_000007.13:g.150645534T>A; NC_000007.13:g.150645534T>G
CLNSRC ClinVar
CLNACC RCV000181882.2, RCV000058152.2, RCV000171815.2, RCV000223864.1,



[PMID 17227789] The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study.


[PMID 17534376OA-icon.png] Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.


[PMID 18785031] Common variation in NOS1AP and KCNH2 genes and QT interval duration in young adults. The Cardiovascular Risk in Young Finns Study.


[PMID 19214780OA-icon.png] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).


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


[PMID 14760OA-icon.png] Prazosin, a selective antagonist of post-synaptic alpha-adrenoceptors [proceedings].


[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 11997281] Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.


[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.


GET Evidence
KCNH2-K897T
aa_change Lys897Thr
aa_change_short K897T
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.169083
summary



[PMID 22688145] Clinical response and side effects of metoclopramide: associations with clinical, demographic, and pharmacogenetic parameters