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rs199473279

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473279(A;A)
Make rs199473279(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38554303
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473279
ebirs199473279
HLIrs199473279
Exacrs199473279
Varsomers199473279
Maprs199473279
PheGenIrs199473279
hapmaprs199473279
1000 genomesrs199473279
hgdprs199473279
ensemblrs199473279
gopubmedrs199473279
geneviewrs199473279
scholarrs199473279
googlers199473279
pharmgkbrs199473279
gwascentralrs199473279
openSNPrs199473279
23andMers199473279
23andMe allrs199473279
SNP Nexus

SNPshotrs199473279
SNPdbers199473279
MSV3drs199473279
GWAS Ctlgrs199473279
Max Magnitude0
ClinVar
Risk rs199473279(A;A)
Alt rs199473279(A;A)
Reference rs199473279(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38595794C>T
CLNSRC ClinVar
CLNACC RCV000058708.2,