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rs137854607

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854607(A;A)
Make rs137854607(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38554309
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854607
ebirs137854607
HLIrs137854607
Exacrs137854607
Varsomers137854607
Maprs137854607
PheGenIrs137854607
hapmaprs137854607
1000 genomesrs137854607
hgdprs137854607
ensemblrs137854607
gopubmedrs137854607
geneviewrs137854607
scholarrs137854607
googlers137854607
pharmgkbrs137854607
gwascentralrs137854607
openSNPrs137854607
23andMers137854607
23andMe allrs137854607
SNP Nexus

SNPshotrs137854607
SNPdbers137854607
MSV3drs137854607
GWAS Ctlgrs137854607
Max Magnitude0
OMIM600163
Desc
Variant0017
Relatedalso
OMIM600163
Desc
Variant0039
Relatedalso
ClinVar
Risk rs137854607(A,C;A,C)
Alt rs137854607(A,C;A,C)
Reference rs137854607(G;G)
Significance Pathogenic
Disease Dilated cardiomyopathy 1E Dilated cardiomyopathy Progressive familial heart block type 1A Atrioventricular block not provided
Variation info
Gene SCN5A
CLNDBN Dilated cardiomyopathy 1E Dilated cardiomyopathy Progressive familial heart block type 1A Atrioventricular block not provided
Reversed 1
HGVS NC_000003.11:g.38595800C>G; NC_000003.11:g.38595800C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010009.2, RCV000058706.2, RCV000009983.2, RCV000058705.2, RCV000183084.2,


[PMID 15671429OA-icon.png] Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.


[PMID 18048769] Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia.


[PMID 11804990] Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.