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rs199473246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473246(A;A)
Make rs199473246(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38557234
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473246
ebirs199473246
HLIrs199473246
Exacrs199473246
Varsomers199473246
Maprs199473246
PheGenIrs199473246
hapmaprs199473246
1000 genomesrs199473246
hgdprs199473246
ensemblrs199473246
gopubmedrs199473246
geneviewrs199473246
scholarrs199473246
googlers199473246
pharmgkbrs199473246
gwascentralrs199473246
openSNPrs199473246
23andMers199473246
23andMe allrs199473246
SNP Nexus

SNPshotrs199473246
SNPdbers199473246
MSV3drs199473246
GWAS Ctlgrs199473246
Max Magnitude0
ClinVar
Risk rs199473246(A,C;A,C)
Alt rs199473246(A,C;A,C)
Reference rs199473246(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.38598725C>G
CLNSRC ClinVar
CLNACC RCV000058658.2,