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rs199473212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473212(A;C)
Make rs199473212(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38566527
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473212
ebirs199473212
HLIrs199473212
Exacrs199473212
Varsomers199473212
Maprs199473212
PheGenIrs199473212
hapmaprs199473212
1000 genomesrs199473212
hgdprs199473212
ensemblrs199473212
gopubmedrs199473212
geneviewrs199473212
scholarrs199473212
googlers199473212
pharmgkbrs199473212
gwascentralrs199473212
openSNPrs199473212
23andMers199473212
23andMe allrs199473212
SNP Nexus

SNPshotrs199473212
SNPdbers199473212
MSV3drs199473212
GWAS Ctlgrs199473212
Max Magnitude0
ClinVar
Risk rs199473212(C;C)
Alt rs199473212(C;C)
Reference rs199473212(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38608018T>G
CLNSRC ClinVar
CLNACC RCV000058594.2,