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rs199473287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473287(C;T)
Make rs199473287(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position38551442
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473287
ebirs199473287
HLIrs199473287
Exacrs199473287
Varsomers199473287
Maprs199473287
PheGenIrs199473287
hapmaprs199473287
1000 genomesrs199473287
hgdprs199473287
ensemblrs199473287
gopubmedrs199473287
geneviewrs199473287
scholarrs199473287
googlers199473287
pharmgkbrs199473287
gwascentralrs199473287
openSNPrs199473287
23andMers199473287
23andMe allrs199473287
SNP Nexus

SNPshotrs199473287
SNPdbers199473287
MSV3drs199473287
GWAS Ctlgrs199473287
Max Magnitude0
ClinVar
Risk rs199473287(T;T)
Alt rs199473287(T;T)
Reference rs199473287(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.38592933G>A
CLNSRC ClinVar
CLNACC RCV000058725.2,