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rs137854601

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854601(A;A)
Make rs137854601(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38551022
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854601
ebirs137854601
HLIrs137854601
Exacrs137854601
Varsomers137854601
Maprs137854601
PheGenIrs137854601
hapmaprs137854601
1000 genomesrs137854601
hgdprs137854601
ensemblrs137854601
gopubmedrs137854601
geneviewrs137854601
scholarrs137854601
googlers137854601
pharmgkbrs137854601
gwascentralrs137854601
openSNPrs137854601
23andMers137854601
23andMe allrs137854601
SNP Nexus

SNPshotrs137854601
SNPdbers137854601
MSV3drs137854601
GWAS Ctlgrs137854601
Max Magnitude0
OMIM600163
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137854601(A;A)
Alt rs137854601(A;A)
Reference rs137854601(G;G)
Significance Pathogenic
Disease Long qt syndrome 3 Brugada syndrome 1 Sinus node disease Congenital long QT syndrome not provided Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Long qt syndrome 3 Brugada syndrome 1 Sinus node disease Congenital long QT syndrome not provided Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38592513C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009972.2, RCV000009973.2, RCV000009974.2, RCV000058773.2, RCV000183117.2, RCV000208193.2,


[PMID 15840] The purification and properties of NADP-dependent isocitrate dehydrogenase from ox-heart mitochondria.


[PMID 10377081] Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.


[PMID 10961955] The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge.


[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.


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


[PMID 12877697] Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.