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rs137854619

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854619(A;A)
Make rs137854619(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38550917
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854619
ebirs137854619
HLIrs137854619
Exacrs137854619
Varsomers137854619
Maprs137854619
PheGenIrs137854619
hapmaprs137854619
1000 genomesrs137854619
hgdprs137854619
ensemblrs137854619
gopubmedrs137854619
geneviewrs137854619
scholarrs137854619
googlers137854619
pharmgkbrs137854619
gwascentralrs137854619
openSNPrs137854619
23andMers137854619
23andMe allrs137854619
SNP Nexus

SNPshotrs137854619
SNPdbers137854619
MSV3drs137854619
GWAS Ctlgrs137854619
Max Magnitude0
OMIM600163
Desc
Variant0035
Relatedalso
ClinVar
Risk rs137854619(A;A)
Alt rs137854619(A;A)
Reference rs137854619(G;G)
Significance Pathogenic
Disease Long QT syndrome 2/3 Congenital long QT syndrome Long QT syndrome not specified Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Long QT syndrome 2/3, digenic Congenital long QT syndrome Long QT syndrome not specified Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38592408C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010005.2, RCV000058782.2, RCV000171695.1, RCV000183199.3, RCV000203774.1,


[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.