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rs199473188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473188(A;A)
Make rs199473188(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38579488
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473188
ebirs199473188
HLIrs199473188
Exacrs199473188
Varsomers199473188
Maprs199473188
PheGenIrs199473188
hapmaprs199473188
1000 genomesrs199473188
hgdprs199473188
ensemblrs199473188
gopubmedrs199473188
geneviewrs199473188
scholarrs199473188
googlers199473188
pharmgkbrs199473188
gwascentralrs199473188
openSNPrs199473188
23andMers199473188
23andMe allrs199473188
SNP Nexus

SNPshotrs199473188
SNPdbers199473188
MSV3drs199473188
GWAS Ctlgrs199473188
Max Magnitude0
ClinVar
Risk rs199473188(A,T;A,T)
Alt rs199473188(A,T;A,T)
Reference rs199473188(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38620979G>A; NC_000003.11:g.38620979G>T
CLNSRC ClinVar
CLNACC RCV000058556.2, RCV000058555.2,