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rs137854618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854618(A;A)
Make rs137854618(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38566426
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854618
ebirs137854618
HLIrs137854618
Exacrs137854618
Varsomers137854618
Maprs137854618
PheGenIrs137854618
hapmaprs137854618
1000 genomesrs137854618
hgdprs137854618
ensemblrs137854618
gopubmedrs137854618
geneviewrs137854618
scholarrs137854618
googlers137854618
pharmgkbrs137854618
gwascentralrs137854618
openSNPrs137854618
23andMers137854618
23andMe allrs137854618
SNP Nexus

SNPshotrs137854618
SNPdbers137854618
MSV3drs137854618
GWAS Ctlgrs137854618
Max Magnitude0
OMIM600163
Desc
Variant0034
Relatedalso
ClinVar
Risk rs137854618(A,T;A,T)
Alt rs137854618(A,T;A,T)
Reference rs137854618(G;G)
Significance Pathogenic
Disease not provided Dilated cardiomyopathy 1E Atrial fibrillation Brugada syndrome Atrial standstill 1
Variation info
Gene SCN5A
CLNDBN not provided Dilated cardiomyopathy 1E Atrial fibrillation, familial, 10 Brugada syndrome Atrial standstill 1, digenic
Reversed 1
HGVS NC_000003.11:g.38607917C>A; NC_000003.11:g.38607917C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000183046.2, RCV000010003.4, RCV000022946.4, RCV000058604.2, RCV000114992.2, RCV000183045.2,


[PMID 20384] An enzymatic time/temperature device for monitoring the handling of perishable commodities.


[PMID 12522116] A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.


[PMID 15466643] SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.


[PMID 16684018] SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias.


[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.