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rs199473342

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473342(C;C)
Make rs199473342(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38555691
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473342
ebirs199473342
HLIrs199473342
Exacrs199473342
Varsomers199473342
Maprs199473342
PheGenIrs199473342
hapmaprs199473342
1000 genomesrs199473342
hgdprs199473342
ensemblrs199473342
gopubmedrs199473342
geneviewrs199473342
scholarrs199473342
googlers199473342
pharmgkbrs199473342
gwascentralrs199473342
openSNPrs199473342
23andMers199473342
23andMe allrs199473342
SNP Nexus

SNPshotrs199473342
SNPdbers199473342
MSV3drs199473342
GWAS Ctlgrs199473342
Max Magnitude0
ClinVar
Risk rs199473342(C;C)
Alt rs199473342(C;C)
Reference rs199473342(T;T)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38597182A>G
CLNSRC ClinVar
CLNACC RCV000058686.2,