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rs199473604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473604(A;A)
Make rs199473604(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38560394
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473604
ebirs199473604
HLIrs199473604
Exacrs199473604
Varsomers199473604
Maprs199473604
PheGenIrs199473604
hapmaprs199473604
1000 genomesrs199473604
hgdprs199473604
ensemblrs199473604
gopubmedrs199473604
geneviewrs199473604
scholarrs199473604
googlers199473604
pharmgkbrs199473604
gwascentralrs199473604
openSNPrs199473604
23andMers199473604
23andMe allrs199473604
SNP Nexus

SNPshotrs199473604
SNPdbers199473604
MSV3drs199473604
GWAS Ctlgrs199473604
Max Magnitude0
ClinVar
Risk rs199473604(A;A)
Alt rs199473604(A;A)
Reference rs199473604(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.38601885G>T
CLNSRC ClinVar
CLNACC RCV000058624.2,