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rs199473110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473110(A;A)
Make rs199473110(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38606052
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473110
ebirs199473110
HLIrs199473110
Exacrs199473110
Varsomers199473110
Maprs199473110
PheGenIrs199473110
hapmaprs199473110
1000 genomesrs199473110
hgdprs199473110
ensemblrs199473110
gopubmedrs199473110
geneviewrs199473110
scholarrs199473110
googlers199473110
pharmgkbrs199473110
gwascentralrs199473110
openSNPrs199473110
23andMers199473110
23andMe allrs199473110
SNP Nexus

SNPshotrs199473110
SNPdbers199473110
MSV3drs199473110
GWAS Ctlgrs199473110
Max Magnitude0
ClinVar
Risk rs199473110(A,T;A,T)
Alt rs199473110(A,T;A,T)
Reference rs199473110(G;G)
Significance Pathogenic
Disease not specified Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN not specified Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38647543C>A; NC_000003.11:g.38647543C>T
CLNSRC ClinVar
CLNACC RCV000221861.1, RCV000058409.2,