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rs727504495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504495(A;A)
Make rs727504495(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position38550998
GeneSCN5A
is asnp
is mentioned by
dbSNPrs727504495
dbSNP (classic)rs727504495
ClinGenrs727504495
ebirs727504495
HLIrs727504495
Exacrs727504495
Gnomadrs727504495
Varsomers727504495
LitVarrs727504495
Maprs727504495
PheGenIrs727504495
Biobankrs727504495
1000 genomesrs727504495
hgdprs727504495
ensemblrs727504495
geneviewrs727504495
scholarrs727504495
googlers727504495
pharmgkbrs727504495
gwascentralrs727504495
openSNPrs727504495
23andMers727504495
SNPshotrs727504495
SNPdbers727504495
MSV3drs727504495
GWAS Ctlgrs727504495
Max Magnitude0
ClinVar
Risk rs727504495(A;A)
Alt rs727504495(A;A)
Reference Rs727504495(G;G)
Significance Probable-Pathogenic
Disease not specified Brugada syndrome
Variation info
Gene SCN5A
CLNDBN not specified Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38592489C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000155630.3, RCV000472453.1,