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rs199473594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473594(A;A)
Make rs199473594(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38576676
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473594
ebirs199473594
HLIrs199473594
Exacrs199473594
Varsomers199473594
Maprs199473594
PheGenIrs199473594
hapmaprs199473594
1000 genomesrs199473594
hgdprs199473594
ensemblrs199473594
gopubmedrs199473594
geneviewrs199473594
scholarrs199473594
googlers199473594
pharmgkbrs199473594
gwascentralrs199473594
openSNPrs199473594
23andMers199473594
23andMe allrs199473594
SNP Nexus

SNPshotrs199473594
SNPdbers199473594
MSV3drs199473594
GWAS Ctlgrs199473594
Max Magnitude0
ClinVar
Risk rs199473594(A;A)
Alt rs199473594(A;A)
Reference rs199473594(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.38618167C>T
CLNSRC ClinVar
CLNACC RCV000058573.2,