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rs199473118

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473118(C;T)
Make rs199473118(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position38604067
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473118
ebirs199473118
HLIrs199473118
Exacrs199473118
Varsomers199473118
Maprs199473118
PheGenIrs199473118
hapmaprs199473118
1000 genomesrs199473118
hgdprs199473118
ensemblrs199473118
gopubmedrs199473118
geneviewrs199473118
scholarrs199473118
googlers199473118
pharmgkbrs199473118
gwascentralrs199473118
openSNPrs199473118
23andMers199473118
23andMe allrs199473118
SNP Nexus

SNPshotrs199473118
SNPdbers199473118
MSV3drs199473118
GWAS Ctlgrs199473118
Max Magnitude0
ClinVar
Risk rs199473118(T;T)
Alt rs199473118(T;T)
Reference rs199473118(C;C)
Significance Pathogenic
Disease Progressive familial heart block type 1A Cardiac conduction defect Brugada syndrome 1 Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Progressive familial heart block type 1A Cardiac conduction defect, nonspecific Brugada syndrome 1 Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38645558G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010000.2, RCV000058426.2, RCV000144029.2, RCV000234724.1,


[PMID 12569159OA-icon.png] A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.