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rs6791924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs6791924(A;A)
Make rs6791924(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38633208
GeneSCN5A
is asnp
is mentioned by
dbSNPrs6791924
ebirs6791924
HLIrs6791924
Exacrs6791924
Varsomers6791924
Maprs6791924
PheGenIrs6791924
hapmaprs6791924
1000 genomesrs6791924
hgdprs6791924
ensemblrs6791924
gopubmedrs6791924
geneviewrs6791924
scholarrs6791924
googlers6791924
pharmgkbrs6791924
gwascentralrs6791924
openSNPrs6791924
23andMers6791924
23andMe allrs6791924
SNP Nexus

SNPshotrs6791924
SNPdbers6791924
MSV3drs6791924
GWAS Ctlgrs6791924
GMAF0.02663
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs6791924(A;A)
Alt rs6791924(A;A)
Reference rs6791924(G;G)
Significance Non-pathogenic
Disease not specified not provided
Variation info
Gene SCN5A
CLNDBN not specified not provided
Reversed 0
HGVS NC_000003.11:g.38674699G>A
CLNSRC ClinVar
CLNACC RCV000041594.3, RCV000058380.3,



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


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


[PMID 17161064] Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes.


[PMID 17675083OA-icon.png] Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction.


[PMID 17993325OA-icon.png] Genetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias.


[PMID 19841300OA-icon.png] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.


GET Evidence
SCN5A-R34C
aa_change Arg34Cys
aa_change_short R34C
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.0306286
summary SNC5A is the cardiac sodium channel gene. Mutations in this gene have been associated with idiopathic ventricular fibrillation and Burgunda Syndrome, however, the R34C mutation of the gene has been largely identified as benign with no noticeable phenotypic effect. Although this gene is associated with acquired Long-QT syndrome (alQTS) Yang et al. found no difference in the frequency of this variant in alQTS patients and controls (3% versus 3%). AFFECT PROTEIN FUNCTION