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rs199473120

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473120(G;G)
Make rs199473120(G;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38604014
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473120
ebirs199473120
HLIrs199473120
Exacrs199473120
Varsomers199473120
Maprs199473120
PheGenIrs199473120
hapmaprs199473120
1000 genomesrs199473120
hgdprs199473120
ensemblrs199473120
gopubmedrs199473120
geneviewrs199473120
scholarrs199473120
googlers199473120
pharmgkbrs199473120
gwascentralrs199473120
openSNPrs199473120
23andMers199473120
23andMe allrs199473120
SNP Nexus

SNPshotrs199473120
SNPdbers199473120
MSV3drs199473120
GWAS Ctlgrs199473120
Max Magnitude0
ClinVar
Risk rs199473120(G;G)
Alt rs199473120(G;G)
Reference rs199473120(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38645505A>C
CLNSRC ClinVar
CLNACC RCV000058432.2,