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rs6599230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common (and likely to be benign)
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position38633221
GeneSCN5A
is asnp
is mentioned by
dbSNPrs6599230
dbSNP (classic)rs6599230
ClinGenrs6599230
ebirs6599230
HLIrs6599230
Exacrs6599230
Gnomadrs6599230
Varsomers6599230
LitVarrs6599230
Maprs6599230
PheGenIrs6599230
Biobankrs6599230
1000 genomesrs6599230
hgdprs6599230
ensemblrs6599230
geneviewrs6599230
scholarrs6599230
googlers6599230
pharmgkbrs6599230
gwascentralrs6599230
openSNPrs6599230
23andMers6599230
SNPshotrs6599230
SNPdbers6599230
MSV3drs6599230
GWAS Ctlgrs6599230
Max Magnitude0

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

[PMID 26497660] Novel association of polymorphic genetic variants with predictors of outcome of catheter ablation in atrial fibrillation: new directions from a prospective study (DECAF)

ClinVar
Risk Rs6599230(C;C)
Alt Rs6599230(C;C)
Reference Rs6599230(T;T)
Significance Probable-non-pathogenic
Disease not specified Cardiovascular phenotype Romano-Ward syndrome Sick sinus syndrome Brugada syndrome Progressive familial heart block Paroxysmal familial ventricular fibrillation Dilated Cardiomyopathy Long QT syndrome
Variation info
Gene SCN5A
CLNDBN not specified Cardiovascular phenotype Romano-Ward syndrome Sick sinus syndrome Brugada syndrome Progressive familial heart block Paroxysmal familial ventricular fibrillation Dilated Cardiomyopathy, Dominant Long QT syndrome
Reversed 0
HGVS NC_000003.11:g.38674712T>C
CLNSRC
CLNACC RCV000041640.9, RCV000249089.1, RCV000289272.1, RCV000292966.1, RCV000344291.1, RCV000347707.1, RCV000383571.1, RCV000387171.1, RCV000408022.1,