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rs199473321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473321(A;G)
Make rs199473321(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38550856
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473321
ebirs199473321
HLIrs199473321
Exacrs199473321
Varsomers199473321
Maprs199473321
PheGenIrs199473321
hapmaprs199473321
1000 genomesrs199473321
hgdprs199473321
ensemblrs199473321
gopubmedrs199473321
geneviewrs199473321
scholarrs199473321
googlers199473321
pharmgkbrs199473321
gwascentralrs199473321
openSNPrs199473321
23andMers199473321
23andMe allrs199473321
SNP Nexus

SNPshotrs199473321
SNPdbers199473321
MSV3drs199473321
GWAS Ctlgrs199473321
Max Magnitude0
ClinVar
Risk rs199473321(G;G)
Alt rs199473321(G;G)
Reference rs199473321(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.38592347T>C
CLNSRC ClinVar
CLNACC RCV000058789.2,