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rs199473223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473223(A;A)
Make rs199473223(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38560407
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473223
ebirs199473223
HLIrs199473223
Exacrs199473223
Varsomers199473223
Maprs199473223
PheGenIrs199473223
hapmaprs199473223
1000 genomesrs199473223
hgdprs199473223
ensemblrs199473223
gopubmedrs199473223
geneviewrs199473223
scholarrs199473223
googlers199473223
pharmgkbrs199473223
gwascentralrs199473223
openSNPrs199473223
23andMers199473223
23andMe allrs199473223
SNP Nexus

SNPshotrs199473223
SNPdbers199473223
MSV3drs199473223
GWAS Ctlgrs199473223
Max Magnitude0
ClinVar
Risk rs199473223(A;A)
Alt rs199473223(A;A)
Reference rs199473223(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.38601898C>T
CLNSRC ClinVar
CLNACC RCV000058620.2,