rs1805124
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1805124(A;G) |
| Make rs1805124(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38603929 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805124 |
| dbSNP (classic) | rs1805124 |
| ClinGen | rs1805124 |
| ebi | rs1805124 |
| HLI | rs1805124 |
| Exac | rs1805124 |
| Gnomad | rs1805124 |
| Varsome | rs1805124 |
| LitVar | rs1805124 |
| Map | rs1805124 |
| PheGenI | rs1805124 |
| Biobank | rs1805124 |
| 1000 genomes | rs1805124 |
| hgdp | rs1805124 |
| ensembl | rs1805124 |
| geneview | rs1805124 |
| scholar | rs1805124 |
| rs1805124 | |
| pharmgkb | rs1805124 |
| gwascentral | rs1805124 |
| openSNP | rs1805124 |
| 23andMe | rs1805124 |
| SNPshot | rs1805124 |
| SNPdbe | rs1805124 |
| MSV3d | rs1805124 |
| GWAS Ctlg | rs1805124 |
| GMAF | 0.2057 |
| Max Magnitude | 0 |
rs1805124, also known as His558Arg or H558R, is a SNP in the cardiac sodium channel SCN5A gene.
This SNP is quite common, a variants go, with an allele frequency of 10 - 25% in many populations. It seems to be considered to be a benign change.[PMID 18378609
]
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1805124(G;G) |
| Alt | rs1805124(G;G) |
| Reference | Rs1805124(A;A) |
| Significance | Pathogenic |
| Disease | Progressive familial heart block type 1A not specified not provided Cardiovascular phenotype Long QT syndrome Sick sinus syndrome Brugada syndrome Romano-Ward syndrome Dilated Cardiomyopathy Paroxysmal familial ventricular fibrillation Progressive familial heart block |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Progressive familial heart block type 1A not specified not provided Cardiovascular phenotype Long QT syndrome Sick sinus syndrome Brugada syndrome Romano-Ward syndrome Dilated Cardiomyopathy, Dominant Paroxysmal familial ventricular fibrillation Progressive familial heart block |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38645420T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000010000.3, RCV000041604.5, RCV000058440.3, RCV000251327.1, RCV000300603.1, RCV000304709.1, RCV000335618.1, RCV000339196.1, RCV000361696.1, RCV000405409.1, RCV000406777.1, |
[PMID 17534376] Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.
[PMID 18368697] SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.
[PMID 18674739] Effect of common KCNE1 and SCN5A ion channel gene variants on T-wave alternans, a marker of cardiac repolarization, during clinical exercise stress test: the Finnish Cardiovascular Study.
[PMID 19019189] Common candidate gene variants are associated with QT interval duration in the general population.
[PMID 20062060] Genome-wide association study of PR interval.
[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 11463728] Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block.
[PMID 11997281] Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
[PMID 12569159] A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
[PMID 12639704] Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects.
[PMID 26401487] Mutational analysis of SCN5A gene in long QT syndrome
