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rs199473146

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473146(A;A)
Make rs199473146(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38597920
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473146
ebirs199473146
HLIrs199473146
Exacrs199473146
Varsomers199473146
Maprs199473146
PheGenIrs199473146
hapmaprs199473146
1000 genomesrs199473146
hgdprs199473146
ensemblrs199473146
gopubmedrs199473146
geneviewrs199473146
scholarrs199473146
googlers199473146
pharmgkbrs199473146
gwascentralrs199473146
openSNPrs199473146
23andMers199473146
23andMe allrs199473146
SNP Nexus

SNPshotrs199473146
SNPdbers199473146
MSV3drs199473146
GWAS Ctlgrs199473146
Max Magnitude0
ClinVar
Risk rs199473146(A,T;A,T)
Alt rs199473146(A,T;A,T)
Reference rs199473146(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.38639411C>T
CLNSRC ClinVar
CLNACC RCV000058478.2,