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rs199473127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473127(C;G)
Make rs199473127(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38603885
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473127
ebirs199473127
HLIrs199473127
Exacrs199473127
Varsomers199473127
Maprs199473127
PheGenIrs199473127
hapmaprs199473127
1000 genomesrs199473127
hgdprs199473127
ensemblrs199473127
gopubmedrs199473127
geneviewrs199473127
scholarrs199473127
googlers199473127
pharmgkbrs199473127
gwascentralrs199473127
openSNPrs199473127
23andMers199473127
23andMe allrs199473127
SNP Nexus

SNPshotrs199473127
SNPdbers199473127
MSV3drs199473127
GWAS Ctlgrs199473127
Max Magnitude0
ClinVar
Risk rs199473127(G;G)
Alt rs199473127(G;G)
Reference rs199473127(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38645376G>C
CLNSRC ClinVar
CLNACC RCV000058449.2,