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rs199473338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473338(C;T)
Make rs199473338(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38550355
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473338
dbSNP (classic)rs199473338
ClinGenrs199473338
ebirs199473338
HLIrs199473338
Exacrs199473338
Gnomadrs199473338
Varsomers199473338
LitVarrs199473338
Maprs199473338
PheGenIrs199473338
Biobankrs199473338
1000 genomesrs199473338
hgdprs199473338
ensemblrs199473338
geneviewrs199473338
scholarrs199473338
googlers199473338
pharmgkbrs199473338
gwascentralrs199473338
openSNPrs199473338
23andMers199473338
SNPshotrs199473338
SNPdbers199473338
MSV3drs199473338
GWAS Ctlgrs199473338
Max Magnitude0
ClinVar
Risk rs199473338(G;G) rs199473338(T;T)
Alt rs199473338(G;G) rs199473338(T;T)
Reference Rs199473338(C;C)
Significance Probable-non-pathogenic
Disease not provided not specified Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN not provided not specified Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38591846G>A; NC_000003.11:g.38591846G>C
CLNSRC ClinVar
CLNACC RCV000058826.5, RCV000212996.1, RCV000058825.3,