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rs199473580

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473580(C;T)
Make rs199473580(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38597926
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473580
ebirs199473580
HLIrs199473580
Exacrs199473580
Varsomers199473580
Maprs199473580
PheGenIrs199473580
hapmaprs199473580
1000 genomesrs199473580
hgdprs199473580
ensemblrs199473580
gopubmedrs199473580
geneviewrs199473580
scholarrs199473580
googlers199473580
pharmgkbrs199473580
gwascentralrs199473580
openSNPrs199473580
23andMers199473580
23andMe allrs199473580
SNP Nexus

SNPshotrs199473580
SNPdbers199473580
MSV3drs199473580
GWAS Ctlgrs199473580
Max Magnitude0
ClinVar
Risk rs199473580(T;T)
Alt rs199473580(T;T)
Reference rs199473580(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.38639417G>A
CLNSRC ClinVar
CLNACC RCV000058476.2,