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rs137854603

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854603(A;A)
Make rs137854603(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38550602
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854603
ebirs137854603
HLIrs137854603
Exacrs137854603
Varsomers137854603
Maprs137854603
PheGenIrs137854603
hapmaprs137854603
1000 genomesrs137854603
hgdprs137854603
ensemblrs137854603
gopubmedrs137854603
geneviewrs137854603
scholarrs137854603
googlers137854603
pharmgkbrs137854603
gwascentralrs137854603
openSNPrs137854603
23andMers137854603
23andMe allrs137854603
SNP Nexus

SNPshotrs137854603
SNPdbers137854603
MSV3drs137854603
GWAS Ctlgrs137854603
Max Magnitude0
OMIM600163
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137854603(A;A)
Alt rs137854603(A;A)
Reference rs137854603(G;G)
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.38592093C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009978.3, RCV000058806.2,


[PMID 10690282] Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.


[PMID 12106943] Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.


[PMID 19251209] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.


[PMID 20129283OA-icon.png] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.