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rs1060501130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501130(G;T)
Make rs1060501130(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position38585690
GeneSCN5A
is asnp
is mentioned by
dbSNPrs1060501130
dbSNP (classic)rs1060501130
ClinGenrs1060501130
ebirs1060501130
HLIrs1060501130
Exacrs1060501130
Gnomadrs1060501130
Varsomers1060501130
LitVarrs1060501130
Maprs1060501130
PheGenIrs1060501130
Biobankrs1060501130
1000 genomesrs1060501130
hgdprs1060501130
ensemblrs1060501130
geneviewrs1060501130
scholarrs1060501130
googlers1060501130
pharmgkbrs1060501130
gwascentralrs1060501130
openSNPrs1060501130
23andMers1060501130
SNPshotrs1060501130
SNPdbers1060501130
MSV3drs1060501130
GWAS Ctlgrs1060501130
Max Magnitude0
ClinVar
Risk rs1060501130(T;T)
Alt rs1060501130(T;T)
Reference Rs1060501130(G;G)
Significance Probable-Pathogenic
Disease Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38627181C>A
CLNSRC
CLNACC RCV000476345.1,