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rs1060501127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTCA;CTCA) 0 common in clinvar
Make rs1060501127(-;-)
Make rs1060501127(-;CTCA)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position38550952
GeneSCN5A
is asnp
is mentioned by
dbSNPrs1060501127
dbSNP (classic)rs1060501127
ClinGenrs1060501127
ebirs1060501127
HLIrs1060501127
Exacrs1060501127
Gnomadrs1060501127
Varsomers1060501127
LitVarrs1060501127
Maprs1060501127
PheGenIrs1060501127
Biobankrs1060501127
1000 genomesrs1060501127
hgdprs1060501127
ensemblrs1060501127
geneviewrs1060501127
scholarrs1060501127
googlers1060501127
pharmgkbrs1060501127
gwascentralrs1060501127
openSNPrs1060501127
23andMers1060501127
23andMe allrs1060501127
SNPshotrs1060501127
SNPdbers1060501127
MSV3drs1060501127
GWAS Ctlgrs1060501127
Max Magnitude0
ClinVar
Risk rs1060501127(-;-)
Alt rs1060501127(-;-)
Reference Rs1060501127(CTCA;CTCA)
Significance Probable-Pathogenic
Disease Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38592443_38592446delTGAG
CLNSRC
CLNACC RCV000458951.1,