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rs199473257

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473257(A;A)
Make rs199473257(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38555756
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473257
ebirs199473257
HLIrs199473257
Exacrs199473257
Varsomers199473257
Maprs199473257
PheGenIrs199473257
hapmaprs199473257
1000 genomesrs199473257
hgdprs199473257
ensemblrs199473257
gopubmedrs199473257
geneviewrs199473257
scholarrs199473257
googlers199473257
pharmgkbrs199473257
gwascentralrs199473257
openSNPrs199473257
23andMers199473257
23andMe allrs199473257
SNP Nexus

SNPshotrs199473257
SNPdbers199473257
MSV3drs199473257
GWAS Ctlgrs199473257
Max Magnitude0
ClinVar
Risk rs199473257(A;A)
Alt rs199473257(A;A)
Reference rs199473257(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.38597247C>T
CLNSRC ClinVar
CLNACC RCV000058673.2,