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rs199473078

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473078(C;C)
Make rs199473078(C;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38609929
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473078
ebirs199473078
HLIrs199473078
Exacrs199473078
Varsomers199473078
Maprs199473078
PheGenIrs199473078
hapmaprs199473078
1000 genomesrs199473078
hgdprs199473078
ensemblrs199473078
gopubmedrs199473078
geneviewrs199473078
scholarrs199473078
googlers199473078
pharmgkbrs199473078
gwascentralrs199473078
openSNPrs199473078
23andMers199473078
23andMe allrs199473078
SNP Nexus

SNPshotrs199473078
SNPdbers199473078
MSV3drs199473078
GWAS Ctlgrs199473078
Max Magnitude0
ClinVar
Risk rs199473078(C;C)
Alt rs199473078(C;C)
Reference rs199473078(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38651420C>G
CLNSRC ClinVar
CLNACC RCV000058844.2,