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rs199473640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473640(C;T)
Make rs199473640(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38550338
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473640
dbSNP (classic)rs199473640
ClinGenrs199473640
ebirs199473640
HLIrs199473640
Exacrs199473640
Gnomadrs199473640
Varsomers199473640
LitVarrs199473640
Maprs199473640
PheGenIrs199473640
Biobankrs199473640
1000 genomesrs199473640
hgdprs199473640
ensemblrs199473640
geneviewrs199473640
scholarrs199473640
googlers199473640
pharmgkbrs199473640
gwascentralrs199473640
openSNPrs199473640
23andMers199473640
SNPshotrs199473640
SNPdbers199473640
MSV3drs199473640
GWAS Ctlgrs199473640
Max Magnitude0
ClinVar
Risk rs199473640(T;T)
Alt rs199473640(T;T)
Reference Rs199473640(C;C)
Significance Untested
Disease Congenital long QT syndrome Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38591829G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058827.3, RCV000468309.1,