Have questions? Visit https://www.reddit.com/r/SNPedia

rs199473180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473180(C;T)
Make rs199473180(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38581266
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473180
dbSNP (classic)rs199473180
ClinGenrs199473180
ebirs199473180
HLIrs199473180
Exacrs199473180
Gnomadrs199473180
Varsomers199473180
LitVarrs199473180
Maprs199473180
PheGenIrs199473180
Biobankrs199473180
1000 genomesrs199473180
hgdprs199473180
ensemblrs199473180
geneviewrs199473180
scholarrs199473180
googlers199473180
pharmgkbrs199473180
gwascentralrs199473180
openSNPrs199473180
23andMers199473180
SNPshotrs199473180
SNPdbers199473180
MSV3drs199473180
GWAS Ctlgrs199473180
Max Magnitude0
ClinVar
Risk rs199473180(G;G) rs199473180(T;T)
Alt rs199473180(G;G) rs199473180(T;T)
Reference Rs199473180(C;C)
Significance Probable-Pathogenic
Disease Brugada syndrome not provided
Variation info
Gene SCN5A
CLNDBN Brugada syndrome not provided
Reversed 1
HGVS NC_000003.11:g.38622757G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058533.5, RCV000183015.1,