Have questions? Visit https://www.reddit.com/r/SNPedia

rs137854611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854611(C;T)
Make rs137854611(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position38597787
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854611
ebirs137854611
HLIrs137854611
Exacrs137854611
Varsomers137854611
Maprs137854611
PheGenIrs137854611
hapmaprs137854611
1000 genomesrs137854611
hgdprs137854611
ensemblrs137854611
gopubmedrs137854611
geneviewrs137854611
scholarrs137854611
googlers137854611
pharmgkbrs137854611
gwascentralrs137854611
openSNPrs137854611
23andMers137854611
23andMe allrs137854611
SNP Nexus

SNPshotrs137854611
SNPdbers137854611
MSV3drs137854611
GWAS Ctlgrs137854611
Max Magnitude0
OMIM600163
Desc
Variant0022
Relatedalso
ClinVar
Risk rs137854611(A,T;A,T)
Alt rs137854611(A,T;A,T)
Reference rs137854611(C;C)
Significance Pathogenic
Disease Brugada syndrome 1 Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome 1 Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38639278G>A; NC_000003.11:g.38639278G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009989.3, RCV000058488.2, RCV000058487.2,


[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 11823453] Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.