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rs41315493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs41315493(A;A)
Make rs41315493(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38550521
GeneSCN5A
is asnp
is mentioned by
dbSNPrs41315493
dbSNP (classic)rs41315493
ClinGenrs41315493
ebirs41315493
HLIrs41315493
Exacrs41315493
Gnomadrs41315493
Varsomers41315493
LitVarrs41315493
Maprs41315493
PheGenIrs41315493
Biobankrs41315493
1000 genomesrs41315493
hgdprs41315493
ensemblrs41315493
geneviewrs41315493
scholarrs41315493
googlers41315493
pharmgkbrs41315493
gwascentralrs41315493
openSNPrs41315493
23andMers41315493
SNPshotrs41315493
SNPdbers41315493
MSV3drs41315493
GWAS Ctlgrs41315493
Max Magnitude0
ClinVar
Risk rs41315493(A;A) rs41315493(T;T)
Alt rs41315493(A;A) rs41315493(T;T)
Reference Rs41315493(C;C)
Significance Other
Disease Long QT syndrome not specified not provided Brugada syndrome Pulmonary valve stenosis (rare) Ventricular tachycardia Atrial fibrillation Cardiovascular phenotype Long QT syndrome 2
Variation info
Gene SCN5A
CLNDBN Long QT syndrome not specified not provided Brugada syndrome Pulmonary valve stenosis (rare) Ventricular tachycardia Atrial fibrillation Cardiovascular phenotype Long QT syndrome 2
Reversed 0
HGVS NC_000003.11:g.38592012C>A; NC_000003.11:g.38592012C>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000030444.1, RCV000041632.8, RCV000058811.3, RCV000148837.4, RCV000157493.1, RCV000171770.2, RCV000245882.1, RCV000058810.3, RCV000183135.2, RCV000208349.1, RCV000249083.1,