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rs199473204

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473204(A;A)
Make rs199473204(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38566576
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473204
ebirs199473204
HLIrs199473204
Exacrs199473204
Varsomers199473204
Maprs199473204
PheGenIrs199473204
hapmaprs199473204
1000 genomesrs199473204
hgdprs199473204
ensemblrs199473204
gopubmedrs199473204
geneviewrs199473204
scholarrs199473204
googlers199473204
pharmgkbrs199473204
gwascentralrs199473204
openSNPrs199473204
23andMers199473204
23andMe allrs199473204
SNP Nexus

SNPshotrs199473204
SNPdbers199473204
MSV3drs199473204
GWAS Ctlgrs199473204
Max Magnitude0
ClinVar
Risk rs199473204(A;A)
Alt rs199473204(A;A)
Reference rs199473204(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.38608067C>T
CLNSRC ClinVar
CLNACC RCV000058585.2,