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rs1805124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1805124(A;G)
Make rs1805124(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38603929
GeneSCN5A
is asnp
is mentioned by
dbSNPrs1805124
ebirs1805124
HLIrs1805124
Exacrs1805124
Varsomers1805124
Maprs1805124
PheGenIrs1805124
hapmaprs1805124
1000 genomesrs1805124
hgdprs1805124
ensemblrs1805124
gopubmedrs1805124
geneviewrs1805124
scholarrs1805124
googlers1805124
pharmgkbrs1805124
gwascentralrs1805124
openSNPrs1805124
23andMers1805124
23andMe allrs1805124
SNP Nexus

SNPshotrs1805124
SNPdbers1805124
MSV3drs1805124
GWAS Ctlgrs1805124
GMAF0.2057
Max Magnitude0

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 18378609OA-icon.png]

? (A;A) (A;G) (G;G) 28
OMIM600163
DescSODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A
Variant
Relatedalso


OMIM600163
Desc
Variant0031
Relatedalso


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
Variation info
Gene SCN5A
CLNDBN Progressive familial heart block type 1A not specified not provided
Reversed 1
HGVS NC_000003.11:g.38645420T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010000.2, RCV000041604.4, RCV000058440.2,



[PMID 17534376OA-icon.png] 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 19019189OA-icon.png] Common candidate gene variants are associated with QT interval duration in the general population.


[PMID 20062060OA-icon.png] Genome-wide association study of PR interval.


[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 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 12569159OA-icon.png] 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.


GET Evidence
SCN5A-H558R
aa_change His558Arg
aa_change_short H558R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.245604
summary



[PMID 26401487OA-icon.png] Mutational analysis of SCN5A gene in long QT syndrome