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rs199473585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473585(C;C)
Make rs199473585(C;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38585960
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473585
ebirs199473585
HLIrs199473585
Exacrs199473585
Varsomers199473585
Maprs199473585
PheGenIrs199473585
hapmaprs199473585
1000 genomesrs199473585
hgdprs199473585
ensemblrs199473585
gopubmedrs199473585
geneviewrs199473585
scholarrs199473585
googlers199473585
pharmgkbrs199473585
gwascentralrs199473585
openSNPrs199473585
23andMers199473585
23andMe allrs199473585
SNP Nexus

SNPshotrs199473585
SNPdbers199473585
MSV3drs199473585
GWAS Ctlgrs199473585
Max Magnitude0
ClinVar
Risk rs199473585(C;C)
Alt rs199473585(C;C)
Reference rs199473585(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.38627451C>G
CLNSRC ClinVar
CLNACC RCV000058507.2,