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rs199473207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473207(C;T)
Make rs199473207(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position38566555
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473207
ebirs199473207
HLIrs199473207
Exacrs199473207
Varsomers199473207
Maprs199473207
PheGenIrs199473207
hapmaprs199473207
1000 genomesrs199473207
hgdprs199473207
ensemblrs199473207
gopubmedrs199473207
geneviewrs199473207
scholarrs199473207
googlers199473207
pharmgkbrs199473207
gwascentralrs199473207
openSNPrs199473207
23andMers199473207
23andMe allrs199473207
SNP Nexus

SNPshotrs199473207
SNPdbers199473207
MSV3drs199473207
GWAS Ctlgrs199473207
Max Magnitude0
ClinVar
Risk rs199473207(T;T)
Alt rs199473207(T;T)
Reference rs199473207(C;C)
Significance Pathogenic
Disease Brugada syndrome 1 Brugada syndrome not specified
Variation info
Gene SCN5A
CLNDBN Brugada syndrome 1 Brugada syndrome not specified
Reversed 1
HGVS NC_000003.11:g.38608046G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009965.3, RCV000058588.2, RCV000144030.2, RCV000183042.2,


[PMID 9521325] Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.

[PMID 19251209] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

[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 21321465] Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.