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rs147205617

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147205617(C;T)
Make rs147205617(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position123642563
GeneSCN3B
is asnp
is mentioned by
dbSNPrs147205617
dbSNP (classic)rs147205617
ClinGenrs147205617
ebirs147205617
HLIrs147205617
Exacrs147205617
Gnomadrs147205617
Varsomers147205617
LitVarrs147205617
Maprs147205617
PheGenIrs147205617
Biobankrs147205617
1000 genomesrs147205617
hgdprs147205617
ensemblrs147205617
geneviewrs147205617
scholarrs147205617
googlers147205617
pharmgkbrs147205617
gwascentralrs147205617
openSNPrs147205617
23andMers147205617
SNPshotrs147205617
SNPdbers147205617
MSV3drs147205617
GWAS Ctlgrs147205617
Max Magnitude0
ClinVar
Risk rs147205617(T;T)
Alt rs147205617(T;T)
Reference Rs147205617(C;C)
Significance Pathogenic
Disease not provided not specified Death in infancy Brugada syndrome 7
Variation info
Gene SCN3B
CLNDBN not provided not specified Death in infancy Brugada syndrome 7
Reversed 0
HGVS NC_000011.9:g.123513271C>T
CLNSRC
CLNACC RCV000171068.3, RCV000185522.2, RCV000234992.1, RCV000467448.1,