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rs199473618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473618(A;A)
Make rs199473618(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38554498
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473618
ebirs199473618
HLIrs199473618
Exacrs199473618
Varsomers199473618
Maprs199473618
PheGenIrs199473618
hapmaprs199473618
1000 genomesrs199473618
hgdprs199473618
ensemblrs199473618
gopubmedrs199473618
geneviewrs199473618
scholarrs199473618
googlers199473618
pharmgkbrs199473618
gwascentralrs199473618
openSNPrs199473618
23andMers199473618
23andMe allrs199473618
SNP Nexus

SNPshotrs199473618
SNPdbers199473618
MSV3drs199473618
GWAS Ctlgrs199473618
Max Magnitude0
ClinVar
Risk rs199473618(A,T;A,T)
Alt rs199473618(A,T;A,T)
Reference rs199473618(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not specified
Variation info
Gene SCN5A
CLNDBN Long QT syndrome Congenital long QT syndrome not specified
Reversed 1
HGVS NC_000003.11:g.38595989C>A; NC_000003.11:g.38595989C>T
CLNSRC ClinVar University of Washington
CLNACC RCV000171698.1, RCV000058693.2, RCV000148850.1, RCV000183081.1,