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rs199473097

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473097(C;T)
Make rs199473097(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38606710
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473097
dbSNP (classic)rs199473097
ClinGenrs199473097
ebirs199473097
HLIrs199473097
Exacrs199473097
Gnomadrs199473097
Varsomers199473097
LitVarrs199473097
Maprs199473097
PheGenIrs199473097
Biobankrs199473097
1000 genomesrs199473097
hgdprs199473097
ensemblrs199473097
geneviewrs199473097
scholarrs199473097
googlers199473097
pharmgkbrs199473097
gwascentralrs199473097
openSNPrs199473097
23andMers199473097
SNPshotrs199473097
SNPdbers199473097
MSV3drs199473097
GWAS Ctlgrs199473097
Max Magnitude0
ClinVar
Risk rs199473097(T;T)
Alt rs199473097(T;T)
Reference Rs199473097(C;C)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome not provided Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not provided Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38648201G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058389.3, RCV000182957.2, RCV000466350.1,