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rs199473590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473590(A;A)
Make rs199473590(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position38581281
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473590
ebirs199473590
HLIrs199473590
Exacrs199473590
Varsomers199473590
Maprs199473590
PheGenIrs199473590
hapmaprs199473590
1000 genomesrs199473590
hgdprs199473590
ensemblrs199473590
gopubmedrs199473590
geneviewrs199473590
scholarrs199473590
googlers199473590
pharmgkbrs199473590
gwascentralrs199473590
openSNPrs199473590
23andMers199473590
23andMe allrs199473590
SNP Nexus

SNPshotrs199473590
SNPdbers199473590
MSV3drs199473590
GWAS Ctlgrs199473590
Max Magnitude0
ClinVar
Risk rs199473590(A;A)
Alt rs199473590(A;A)
Reference rs199473590(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.38622772G>T
CLNSRC ClinVar
CLNACC RCV000058532.2,