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rs199473619

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473619(C;C)
Make rs199473619(C;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38554412
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473619
ebirs199473619
HLIrs199473619
Exacrs199473619
Varsomers199473619
Maprs199473619
PheGenIrs199473619
hapmaprs199473619
1000 genomesrs199473619
hgdprs199473619
ensemblrs199473619
gopubmedrs199473619
geneviewrs199473619
scholarrs199473619
googlers199473619
pharmgkbrs199473619
gwascentralrs199473619
openSNPrs199473619
23andMers199473619
23andMe allrs199473619
SNP Nexus

SNPshotrs199473619
SNPdbers199473619
MSV3drs199473619
GWAS Ctlgrs199473619
Max Magnitude0
ClinVar
Risk rs199473619(C;C)
Alt rs199473619(C;C)
Reference rs199473619(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.38595903C>G
CLNSRC ClinVar
CLNACC RCV000058696.2,