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rs199473200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473200(C;T)
Make rs199473200(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38575440
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473200
ebirs199473200
HLIrs199473200
Exacrs199473200
Varsomers199473200
Maprs199473200
PheGenIrs199473200
hapmaprs199473200
1000 genomesrs199473200
hgdprs199473200
ensemblrs199473200
gopubmedrs199473200
geneviewrs199473200
scholarrs199473200
googlers199473200
pharmgkbrs199473200
gwascentralrs199473200
openSNPrs199473200
23andMers199473200
23andMe allrs199473200
SNP Nexus

SNPshotrs199473200
SNPdbers199473200
MSV3drs199473200
GWAS Ctlgrs199473200
Max Magnitude0
ClinVar
Risk rs199473200(T;T)
Alt rs199473200(T;T)
Reference rs199473200(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38616931G>A
CLNSRC ClinVar
CLNACC RCV000058574.2,