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rs199473605

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473605(A;A)
Make rs199473605(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38560374
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473605
dbSNP (classic)rs199473605
ClinGenrs199473605
ebirs199473605
HLIrs199473605
Exacrs199473605
Gnomadrs199473605
Varsomers199473605
LitVarrs199473605
Maprs199473605
PheGenIrs199473605
Biobankrs199473605
1000 genomesrs199473605
hgdprs199473605
ensemblrs199473605
geneviewrs199473605
scholarrs199473605
googlers199473605
pharmgkbrs199473605
gwascentralrs199473605
openSNPrs199473605
23andMers199473605
SNPshotrs199473605
SNPdbers199473605
MSV3drs199473605
GWAS Ctlgrs199473605
Max Magnitude0
ClinVar
Risk rs199473605(A;A) rs199473605(C;C)
Alt rs199473605(A;A) rs199473605(C;C)
Reference Rs199473605(G;G)
Significance Pathogenic
Disease Cardiovascular phenotype Brugada syndrome not specified
Variation info
Gene SCN5A
CLNDBN Cardiovascular phenotype Brugada syndrome not specified
Reversed 1
HGVS NC_000003.11:g.38601865C>G; NC_000003.11:g.38601865C>T
CLNSRC ClinVar
CLNACC RCV000246290.1, RCV000058628.3, RCV000183058.3,