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rs199473215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473215(A;A)
Make rs199473215(A;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38566416
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473215
ebirs199473215
HLIrs199473215
Exacrs199473215
Varsomers199473215
Maprs199473215
PheGenIrs199473215
hapmaprs199473215
1000 genomesrs199473215
hgdprs199473215
ensemblrs199473215
gopubmedrs199473215
geneviewrs199473215
scholarrs199473215
googlers199473215
pharmgkbrs199473215
gwascentralrs199473215
openSNPrs199473215
23andMers199473215
23andMe allrs199473215
SNP Nexus

SNPshotrs199473215
SNPdbers199473215
MSV3drs199473215
GWAS Ctlgrs199473215
Max Magnitude0
ClinVar
Risk rs199473215(A;A)
Alt rs199473215(A;A)
Reference rs199473215(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.38607907A>T
CLNSRC ClinVar
CLNACC RCV000058605.2,