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rs199473248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473248(C;T)
Make rs199473248(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38556565
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473248
ebirs199473248
HLIrs199473248
Exacrs199473248
Varsomers199473248
Maprs199473248
PheGenIrs199473248
hapmaprs199473248
1000 genomesrs199473248
hgdprs199473248
ensemblrs199473248
gopubmedrs199473248
geneviewrs199473248
scholarrs199473248
googlers199473248
pharmgkbrs199473248
gwascentralrs199473248
openSNPrs199473248
23andMers199473248
23andMe allrs199473248
SNP Nexus

SNPshotrs199473248
SNPdbers199473248
MSV3drs199473248
GWAS Ctlgrs199473248
Max Magnitude0
ClinVar
Risk rs199473248(T;T)
Alt rs199473248(T;T)
Reference rs199473248(C;C)
Significance Pathogenic
Disease Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38598056G>A
CLNSRC ClinVar
CLNACC RCV000058660.2,