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

rs199473250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473250(A;C)
Make rs199473250(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38556536
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473250
ebirs199473250
HLIrs199473250
Exacrs199473250
Varsomers199473250
Maprs199473250
PheGenIrs199473250
hapmaprs199473250
1000 genomesrs199473250
hgdprs199473250
ensemblrs199473250
gopubmedrs199473250
geneviewrs199473250
scholarrs199473250
googlers199473250
pharmgkbrs199473250
gwascentralrs199473250
openSNPrs199473250
23andMers199473250
23andMe allrs199473250
SNP Nexus

SNPshotrs199473250
SNPdbers199473250
MSV3drs199473250
GWAS Ctlgrs199473250
Max Magnitude0
ClinVar
Risk rs199473250(C;C)
Alt rs199473250(C;C)
Reference rs199473250(A;A)
Significance Pathogenic
Disease Brugada syndrome not specified not provided
Variation info
Gene SCN5A
CLNDBN Brugada syndrome not specified not provided
Reversed 1
HGVS NC_000003.11:g.38598027T>G
CLNSRC ClinVar
CLNACC RCV000058662.2, RCV000151779.1, RCV000183193.1,