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rs146848219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146848219(C;T)
Make rs146848219(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position38604004
GeneSCN5A
is asnp
is mentioned by
dbSNPrs146848219
dbSNP (classic)rs146848219
ClinGenrs146848219
ebirs146848219
HLIrs146848219
Exacrs146848219
Gnomadrs146848219
Varsomers146848219
LitVarrs146848219
Maprs146848219
PheGenIrs146848219
Biobankrs146848219
1000 genomesrs146848219
hgdprs146848219
ensemblrs146848219
geneviewrs146848219
scholarrs146848219
googlers146848219
pharmgkbrs146848219
gwascentralrs146848219
openSNPrs146848219
23andMers146848219
SNPshotrs146848219
SNPdbers146848219
MSV3drs146848219
GWAS Ctlgrs146848219
Max Magnitude0
ClinVar
Risk rs146848219(T;T)
Alt rs146848219(T;T)
Reference Rs146848219(C;C)
Significance Probable-Pathogenic
Disease Brugada syndrome not specified Paroxysmal familial ventricular fibrillation Romano-Ward syndrome Progressive familial heart block Dilated Cardiomyopathy Long QT syndrome Sick sinus syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome not specified Paroxysmal familial ventricular fibrillation Romano-Ward syndrome Progressive familial heart block Dilated Cardiomyopathy, Dominant Long QT syndrome Sick sinus syndrome
Reversed 0
HGVS NC_000003.11:g.38645495C>T
CLNSRC
CLNACC RCV000157479.3, RCV000182980.3, RCV000269424.1, RCV000272892.1, RCV000277355.1, RCV000308105.1, RCV000365101.1, RCV000388106.1,