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rs12720452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs12720452(A;A)
Make rs12720452(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38603758
GeneSCN5A
is asnp
is mentioned by
dbSNPrs12720452
ebirs12720452
HLIrs12720452
Exacrs12720452
Varsomers12720452
Maprs12720452
PheGenIrs12720452
hapmaprs12720452
1000 genomesrs12720452
hgdprs12720452
ensemblrs12720452
gopubmedrs12720452
geneviewrs12720452
scholarrs12720452
googlers12720452
pharmgkbrs12720452
gwascentralrs12720452
openSNPrs12720452
23andMers12720452
23andMe allrs12720452
SNP Nexus

SNPshotrs12720452
SNPdbers12720452
MSV3drs12720452
GWAS Ctlgrs12720452
Max Magnitude0
ClinVar
Risk rs12720452(A;A)
Alt rs12720452(A;A)
Reference rs12720452(G;G)
Significance Other
Disease Congenital long QT syndrome Long QT syndrome not specified Brugada syndrome Death in infancy Death in early adulthood
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Long QT syndrome, drug-associated not specified Brugada syndrome Death in infancy Death in early adulthood
Reversed 1
HGVS NC_000003.11:g.38645249C>T
CLNSRC ClinVar University of Washington
CLNACC RCV000058455.2, RCV000148853.2, RCV000151792.3, RCV000168217.1, RCV000234973.1, RCV000234978.1,