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rs199473301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473301(C;T)
Make rs199473301(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551198
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473301
ebirs199473301
HLIrs199473301
Exacrs199473301
Varsomers199473301
Maprs199473301
PheGenIrs199473301
hapmaprs199473301
1000 genomesrs199473301
hgdprs199473301
ensemblrs199473301
gopubmedrs199473301
geneviewrs199473301
scholarrs199473301
googlers199473301
pharmgkbrs199473301
gwascentralrs199473301
openSNPrs199473301
23andMers199473301
23andMe allrs199473301
SNP Nexus

SNPshotrs199473301
SNPdbers199473301
MSV3drs199473301
GWAS Ctlgrs199473301
Max Magnitude0
ClinVar
Risk rs199473301(T;T)
Alt rs199473301(T;T)
Reference rs199473301(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.38592689G>A
CLNSRC ClinVar
CLNACC RCV000058748.2,