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rs199473278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473278(A;A)
Make rs199473278(A;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38554306
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473278
ebirs199473278
HLIrs199473278
Exacrs199473278
Varsomers199473278
Maprs199473278
PheGenIrs199473278
hapmaprs199473278
1000 genomesrs199473278
hgdprs199473278
ensemblrs199473278
gopubmedrs199473278
geneviewrs199473278
scholarrs199473278
googlers199473278
pharmgkbrs199473278
gwascentralrs199473278
openSNPrs199473278
23andMers199473278
23andMe allrs199473278
SNP Nexus

SNPshotrs199473278
SNPdbers199473278
MSV3drs199473278
GWAS Ctlgrs199473278
Max Magnitude0
ClinVar
Risk rs199473278(A;A)
Alt rs199473278(A;A)
Reference rs199473278(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome not specified Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not specified Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38595797A>T
CLNSRC ClinVar
CLNACC RCV000058707.2, RCV000183085.3, RCV000229703.1,