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rs199473310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473310(A;C)
Make rs199473310(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551076
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473310
ebirs199473310
HLIrs199473310
Exacrs199473310
Varsomers199473310
Maprs199473310
PheGenIrs199473310
hapmaprs199473310
1000 genomesrs199473310
hgdprs199473310
ensemblrs199473310
gopubmedrs199473310
geneviewrs199473310
scholarrs199473310
googlers199473310
pharmgkbrs199473310
gwascentralrs199473310
openSNPrs199473310
23andMers199473310
23andMe allrs199473310
SNP Nexus

SNPshotrs199473310
SNPdbers199473310
MSV3drs199473310
GWAS Ctlgrs199473310
Max Magnitude0
ClinVar
Risk rs199473310(C;C)
Alt rs199473310(C;C)
Reference rs199473310(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38592567T>G
CLNSRC ClinVar
CLNACC RCV000058763.2,