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rs199473045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473045(A;A)
Make rs199473045(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38633228
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473045
ebirs199473045
HLIrs199473045
Exacrs199473045
Varsomers199473045
Maprs199473045
PheGenIrs199473045
hapmaprs199473045
1000 genomesrs199473045
hgdprs199473045
ensemblrs199473045
gopubmedrs199473045
geneviewrs199473045
scholarrs199473045
googlers199473045
pharmgkbrs199473045
gwascentralrs199473045
openSNPrs199473045
23andMers199473045
23andMe allrs199473045
SNP Nexus

SNPshotrs199473045
SNPdbers199473045
MSV3drs199473045
GWAS Ctlgrs199473045
Max Magnitude0
ClinVar
Risk rs199473045(A;A)
Alt rs199473045(A;A)
Reference rs199473045(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not specified Brugada syndrome Death in infancy
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not specified Brugada syndrome Death in infancy
Reversed 1
HGVS NC_000003.11:g.38674719C>T
CLNSRC ClinVar
CLNACC RCV000058846.2, RCV000182919.3, RCV000233313.1, RCV000234990.1,