rs1805123
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1805123(A;C) |
| Make rs1805123(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150948446 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805123 |
| dbSNP (classic) | rs1805123 |
| ClinGen | rs1805123 |
| ebi | rs1805123 |
| HLI | rs1805123 |
| Exac | rs1805123 |
| Gnomad | rs1805123 |
| Varsome | rs1805123 |
| LitVar | rs1805123 |
| Map | rs1805123 |
| PheGenI | rs1805123 |
| Biobank | rs1805123 |
| 1000 genomes | rs1805123 |
| hgdp | rs1805123 |
| ensembl | rs1805123 |
| geneview | rs1805123 |
| scholar | rs1805123 |
| rs1805123 | |
| pharmgkb | rs1805123 |
| gwascentral | rs1805123 |
| openSNP | rs1805123 |
| 23andMe | rs1805123 |
| SNPshot | rs1805123 |
| SNPdbe | rs1805123 |
| MSV3d | rs1805123 |
| GWAS Ctlg | rs1805123 |
| GMAF | 0.1295 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 19149796
] Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.
[PMID 20507645] 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 22690879] Genetic polymorphisms for estimating risk of atrial fibrillation: a literature-based meta-analysis
| ClinVar | |
|---|---|
| Risk | rs1805123(C;C) rs1805123(T;T) |
| Alt | rs1805123(C;C) rs1805123(T;T) |
| Reference | Rs1805123(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | not specified not provided Atrial fibrillation Cardiovascular phenotype Long QT syndrome |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | not specified not provided Atrial fibrillation Cardiovascular phenotype Long QT syndrome |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150645534T>A; NC_000007.13:g.150645534T>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000181882.3, RCV000058152.3, RCV000171815.2, RCV000223864.2, RCV000249181.1, RCV000276195.1, |
[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 17534376] 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 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 19305408] Common variants at ten loci influence QT interval duration in the QTGEN Study.
[PMID 14760] 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.
[PMID 22688145] Clinical response and side effects of metoclopramide: associations with clinical, demographic, and pharmacogenetic parameters
