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rs28937317

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28937317(A;G)
Make rs28937317(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position38560418
GeneSCN5A
is asnp
is mentioned by
dbSNPrs28937317
ebirs28937317
HLIrs28937317
Exacrs28937317
Varsomers28937317
Maprs28937317
PheGenIrs28937317
hapmaprs28937317
1000 genomesrs28937317
hgdprs28937317
ensemblrs28937317
gopubmedrs28937317
geneviewrs28937317
scholarrs28937317
googlers28937317
pharmgkbrs28937317
gwascentralrs28937317
openSNPrs28937317
23andMers28937317
23andMe allrs28937317
SNP Nexus

SNPshotrs28937317
SNPdbers28937317
MSV3drs28937317
GWAS Ctlgrs28937317
Max Magnitude0
OMIM600163
DescLONG QT SYNDROME 3
Variant0003
Relatedalso
Neighborrs28936971
Distance248
ClinVar
Risk rs28937317(G;G)
Alt rs28937317(G;G)
Reference rs28937317(A;A)
Significance Pathogenic
Disease Long qt syndrome 3 Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Long qt syndrome 3 Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38601909T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009964.2, RCV000058618.2,


[PMID 8541846] Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.


[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.


[PMID 14736542OA-icon.png] Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo.


[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.


[PMID 17905336] Long QT and Brugada syndrome gene mutations in New Zealand.