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rs137854617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854617(A;A)
Make rs137854617(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38581002
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854617
ebirs137854617
HLIrs137854617
Exacrs137854617
Varsomers137854617
Maprs137854617
PheGenIrs137854617
hapmaprs137854617
1000 genomesrs137854617
hgdprs137854617
ensemblrs137854617
gopubmedrs137854617
geneviewrs137854617
scholarrs137854617
googlers137854617
pharmgkbrs137854617
gwascentralrs137854617
openSNPrs137854617
23andMers137854617
23andMe allrs137854617
SNP Nexus

SNPshotrs137854617
SNPdbers137854617
MSV3drs137854617
GWAS Ctlgrs137854617
Max Magnitude0
OMIM600163
Desc
Variant0033
Relatedalso
ClinVar
Risk rs137854617(A;A)
Alt rs137854617(A;A)
Reference rs137854617(G;G)
Significance Pathogenic
Disease Brugada syndrome 1 Atrial fibrillation Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome 1 Atrial fibrillation, familial, 10 Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38622493C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010002.2, RCV000022945.2, RCV000058552.2,


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


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


[PMID 19716085OA-icon.png] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.