Have questions? Visit https://www.reddit.com/r/SNPedia

rs199473055

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473055(C;T)
Make rs199473055(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38630393
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473055
ebirs199473055
HLIrs199473055
Exacrs199473055
Varsomers199473055
Maprs199473055
PheGenIrs199473055
hapmaprs199473055
1000 genomesrs199473055
hgdprs199473055
ensemblrs199473055
gopubmedrs199473055
geneviewrs199473055
scholarrs199473055
googlers199473055
pharmgkbrs199473055
gwascentralrs199473055
openSNPrs199473055
23andMers199473055
23andMe allrs199473055
SNP Nexus

SNPshotrs199473055
SNPdbers199473055
MSV3drs199473055
GWAS Ctlgrs199473055
Max Magnitude0
ClinVar
Risk rs199473055(G,T;G,T)
Alt rs199473055(G,T;G,T)
Reference rs199473055(C;C)
Significance Pathogenic
Disease Brugada syndrome Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38671884G>A; NC_000003.11:g.38671884G>C
CLNSRC ClinVar
CLNACC RCV000058549.2, RCV000058548.2,