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rs137854606

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854606(G;T)
Make rs137854606(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position38604062
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854606
ebirs137854606
HLIrs137854606
Exacrs137854606
Varsomers137854606
Maprs137854606
PheGenIrs137854606
hapmaprs137854606
1000 genomesrs137854606
hgdprs137854606
ensemblrs137854606
gopubmedrs137854606
geneviewrs137854606
scholarrs137854606
googlers137854606
pharmgkbrs137854606
gwascentralrs137854606
openSNPrs137854606
23andMers137854606
23andMe allrs137854606
SNP Nexus

SNPshotrs137854606
SNPdbers137854606
MSV3drs137854606
GWAS Ctlgrs137854606
Max Magnitude0
OMIM600163
Desc
Variant0016
Relatedalso
ClinVar
Risk rs137854606(T;T)
Alt rs137854606(T;T)
Reference rs137854606(G;G)
Significance Pathogenic
Disease Cardiac conduction defect Cardiac conduction defect
Variation info
Gene SCN5A
CLNDBN Cardiac conduction defect, nonprogressive Cardiac conduction defect, nonspecific
Reversed 1
HGVS NC_000003.11:g.38645553C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009984.3, RCV000058427.2,


[PMID 11234013] A sodium-channel mutation causes isolated cardiac conduction disease.


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