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rs752824646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs752824646(C;T)
Make rs752824646(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position38609881
GeneSCN5A
is asnp
is mentioned by
dbSNPrs752824646
dbSNP (classic)rs752824646
ClinGenrs752824646
ebirs752824646
HLIrs752824646
Exacrs752824646
Gnomadrs752824646
Varsomers752824646
LitVarrs752824646
Maprs752824646
PheGenIrs752824646
Biobankrs752824646
1000 genomesrs752824646
hgdprs752824646
ensemblrs752824646
geneviewrs752824646
scholarrs752824646
googlers752824646
pharmgkbrs752824646
gwascentralrs752824646
openSNPrs752824646
23andMers752824646
SNPshotrs752824646
SNPdbers752824646
MSV3drs752824646
GWAS Ctlgrs752824646
Max Magnitude0
ClinVar
Risk rs752824646(T;T)
Alt rs752824646(T;T)
Reference Rs752824646(C;C)
Significance Probable-Pathogenic
Disease not specified Progressive familial heart block Romano-Ward syndrome Paroxysmal familial ventricular fibrillation Sick sinus syndrome Brugada syndrome Long QT syndrome Dilated Cardiomyopathy
Variation info
Gene SCN5A
CLNDBN not specified Progressive familial heart block Romano-Ward syndrome Paroxysmal familial ventricular fibrillation Sick sinus syndrome Brugada syndrome Long QT syndrome Dilated Cardiomyopathy, Dominant
Reversed 0
HGVS NC_000003.11:g.38651372C>T
CLNSRC
CLNACC RCV000182947.2, RCV000279922.1, RCV000294829.1, RCV000319650.1, RCV000334721.1, RCV000349715.1, RCV000374434.1, RCV000389273.1,