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rs137854610

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854610(A;A)
Make rs137854610(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38550895
GeneSCN5A
is asnp
is mentioned by
dbSNPrs137854610
ebirs137854610
HLIrs137854610
Exacrs137854610
Varsomers137854610
Maprs137854610
PheGenIrs137854610
hapmaprs137854610
1000 genomesrs137854610
hgdprs137854610
ensemblrs137854610
gopubmedrs137854610
geneviewrs137854610
scholarrs137854610
googlers137854610
pharmgkbrs137854610
gwascentralrs137854610
openSNPrs137854610
23andMers137854610
23andMe allrs137854610
SNP Nexus

SNPshotrs137854610
SNPdbers137854610
MSV3drs137854610
GWAS Ctlgrs137854610
Max Magnitude0
OMIM600163
Desc
Variant0020
Relatedalso
ClinVar
Risk rs137854610(A;A)
Alt rs137854610(A;A)
Reference rs137854610(G;G)
Significance Pathogenic
Disease Long qt syndrome 3 Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME not specified not provided
Variation info
Gene SCN5A
CLNDBN Long qt syndrome 3 Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME not specified not provided
Reversed 1
HGVS NC_000003.11:g.38592386C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009987.4, RCV000058786.2, RCV000148848.1, RCV000154827.1, RCV000183123.1,


[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.