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

rs137854616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854616(A;A)
Make rs137854616(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38566465
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854616
ebirs137854616
HLIrs137854616
Exacrs137854616
Varsomers137854616
Maprs137854616
PheGenIrs137854616
hapmaprs137854616
1000 genomesrs137854616
hgdprs137854616
ensemblrs137854616
gopubmedrs137854616
geneviewrs137854616
scholarrs137854616
googlers137854616
pharmgkbrs137854616
gwascentralrs137854616
openSNPrs137854616
23andMers137854616
23andMe allrs137854616
SNP Nexus

SNPshotrs137854616
SNPdbers137854616
MSV3drs137854616
GWAS Ctlgrs137854616
Max Magnitude0
OMIM600163
Desc
Variant0032
Relatedalso
ClinVar
Risk rs137854616(A;A)
Alt rs137854616(A;A)
Reference rs137854616(G;G)
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.38607956C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010001.2, RCV000058602.2,


[PMID 15338453] Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome.


[PMID 20129283OA-icon.png] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.