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rs199473616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473616(G;T)
Make rs199473616(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38555731
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473616
ebirs199473616
HLIrs199473616
Exacrs199473616
Varsomers199473616
Maprs199473616
PheGenIrs199473616
hapmaprs199473616
1000 genomesrs199473616
hgdprs199473616
ensemblrs199473616
gopubmedrs199473616
geneviewrs199473616
scholarrs199473616
googlers199473616
pharmgkbrs199473616
gwascentralrs199473616
openSNPrs199473616
23andMers199473616
23andMe allrs199473616
SNP Nexus

SNPshotrs199473616
SNPdbers199473616
MSV3drs199473616
GWAS Ctlgrs199473616
Max Magnitude0
ClinVar
Risk rs199473616(T;T)
Alt rs199473616(T;T)
Reference rs199473616(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38597222C>A
CLNSRC ClinVar
CLNACC RCV000058677.2,