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rs199473622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473622(C;G)
Make rs199473622(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551546
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473622
ebirs199473622
HLIrs199473622
Exacrs199473622
Varsomers199473622
Maprs199473622
PheGenIrs199473622
hapmaprs199473622
1000 genomesrs199473622
hgdprs199473622
ensemblrs199473622
gopubmedrs199473622
geneviewrs199473622
scholarrs199473622
googlers199473622
pharmgkbrs199473622
gwascentralrs199473622
openSNPrs199473622
23andMers199473622
23andMe allrs199473622
SNP Nexus

SNPshotrs199473622
SNPdbers199473622
MSV3drs199473622
GWAS Ctlgrs199473622
Max Magnitude0
ClinVar
Risk rs199473622(G,T;G,T)
Alt rs199473622(G,T;G,T)
Reference rs199473622(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38593037G>C
CLNSRC ClinVar
CLNACC RCV000058712.2,