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rs199473320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473320(C;G)
Make rs199473320(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38550878
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473320
dbSNP (classic)rs199473320
ClinGenrs199473320
ebirs199473320
HLIrs199473320
Exacrs199473320
Gnomadrs199473320
Varsomers199473320
LitVarrs199473320
Maprs199473320
PheGenIrs199473320
Biobankrs199473320
1000 genomesrs199473320
hgdprs199473320
ensemblrs199473320
geneviewrs199473320
scholarrs199473320
googlers199473320
pharmgkbrs199473320
gwascentralrs199473320
openSNPrs199473320
23andMers199473320
SNPshotrs199473320
SNPdbers199473320
MSV3drs199473320
GWAS Ctlgrs199473320
Max Magnitude0
ClinVar
Risk rs199473320(G;G)
Alt rs199473320(G;G)
Reference Rs199473320(C;C)
Significance Probable-non-pathogenic
Disease not specified Brugada syndrome Cardiovascular phenotype
Variation info
Gene SCN5A
CLNDBN not specified Brugada syndrome Cardiovascular phenotype
Reversed 1
HGVS NC_000003.11:g.38592369G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000041628.3, RCV000058787.3, RCV000245837.1,