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rs199473312

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473312(C;G)
Make rs199473312(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551058
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473312
ebirs199473312
HLIrs199473312
Exacrs199473312
Varsomers199473312
Maprs199473312
PheGenIrs199473312
hapmaprs199473312
1000 genomesrs199473312
hgdprs199473312
ensemblrs199473312
gopubmedrs199473312
geneviewrs199473312
scholarrs199473312
googlers199473312
pharmgkbrs199473312
gwascentralrs199473312
openSNPrs199473312
23andMers199473312
23andMe allrs199473312
SNP Nexus

SNPshotrs199473312
SNPdbers199473312
MSV3drs199473312
GWAS Ctlgrs199473312
Max Magnitude0
ClinVar
Risk rs199473312(G;G)
Alt rs199473312(G;G)
Reference rs199473312(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.38592549G>C
CLNSRC ClinVar
CLNACC RCV000058767.2,