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rs137854615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854615(C;C)
Make rs137854615(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position38550989
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854615
ebirs137854615
HLIrs137854615
Exacrs137854615
Varsomers137854615
Maprs137854615
PheGenIrs137854615
hapmaprs137854615
1000 genomesrs137854615
hgdprs137854615
ensemblrs137854615
gopubmedrs137854615
geneviewrs137854615
scholarrs137854615
googlers137854615
pharmgkbrs137854615
gwascentralrs137854615
openSNPrs137854615
23andMers137854615
23andMe allrs137854615
SNP Nexus

SNPshotrs137854615
SNPdbers137854615
MSV3drs137854615
GWAS Ctlgrs137854615
Max Magnitude0
OMIM600163
Desc
Variant0030
Relatedalso
ClinVar
Risk rs137854615(C;C)
Alt rs137854615(C;C)
Reference rs137854615(T;T)
Significance Pathogenic
Disease Brugada syndrome 1 Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome 1 Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38592480A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009999.2, RCV000058777.2,


[PMID 11076825] Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families.


[PMID 11410597] Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.


[PMID 11901046] Natural history of Brugada syndrome: insights for risk stratification and management.