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rs137854609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854609(G;T)
Make rs137854609(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position38581170
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854609
ebirs137854609
HLIrs137854609
Exacrs137854609
Varsomers137854609
Maprs137854609
PheGenIrs137854609
hapmaprs137854609
1000 genomesrs137854609
hgdprs137854609
ensemblrs137854609
gopubmedrs137854609
geneviewrs137854609
scholarrs137854609
googlers137854609
pharmgkbrs137854609
gwascentralrs137854609
openSNPrs137854609
23andMers137854609
23andMe allrs137854609
SNP Nexus

SNPshotrs137854609
SNPdbers137854609
MSV3drs137854609
GWAS Ctlgrs137854609
Max Magnitude0
OMIM600163
Desc
Variant0019
Relatedalso
ClinVar
Risk rs137854609(A,T;A,T)
Alt rs137854609(A,T;A,T)
Reference rs137854609(G;G)
Significance Pathogenic
Disease Long qt syndrome 3 Congenital long QT syndrome not provided Brugada syndrome not specified SUDDEN INFANT DEATH SYNDROME
Variation info
Gene SCN5A
CLNDBN Long qt syndrome 3 Congenital long QT syndrome not provided Brugada syndrome not specified SUDDEN INFANT DEATH SYNDROME
Reversed 1
HGVS NC_000003.11:g.38622661C>A; NC_000003.11:g.38622661C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009986.2, RCV000058542.2, RCV000183020.2, RCV000058541.2, RCV000151787.2, RCV000171570.2,


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


[PMID 11710892] Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.


[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.