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rs1060501145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501145(G;T)
Make rs1060501145(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position38550944
GeneSCN5A
is asnp
is mentioned by
dbSNPrs1060501145
dbSNP (classic)rs1060501145
ClinGenrs1060501145
ebirs1060501145
HLIrs1060501145
Exacrs1060501145
Gnomadrs1060501145
Varsomers1060501145
LitVarrs1060501145
Maprs1060501145
PheGenIrs1060501145
Biobankrs1060501145
1000 genomesrs1060501145
hgdprs1060501145
ensemblrs1060501145
geneviewrs1060501145
scholarrs1060501145
googlers1060501145
pharmgkbrs1060501145
gwascentralrs1060501145
openSNPrs1060501145
23andMers1060501145
SNPshotrs1060501145
SNPdbers1060501145
MSV3drs1060501145
GWAS Ctlgrs1060501145
Max Magnitude0
ClinVar
Risk rs1060501145(T;T)
Alt rs1060501145(T;T)
Reference Rs1060501145(G;G)
Significance Pathogenic
Disease Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38592435C>A
CLNSRC
CLNACC RCV000458925.1,