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rs199473572

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473572(A;A)
Make rs199473572(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38604863
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473572
ebirs199473572
HLIrs199473572
Exacrs199473572
Varsomers199473572
Maprs199473572
PheGenIrs199473572
hapmaprs199473572
1000 genomesrs199473572
hgdprs199473572
ensemblrs199473572
gopubmedrs199473572
geneviewrs199473572
scholarrs199473572
googlers199473572
pharmgkbrs199473572
gwascentralrs199473572
openSNPrs199473572
23andMers199473572
23andMe allrs199473572
SNP Nexus

SNPshotrs199473572
SNPdbers199473572
MSV3drs199473572
GWAS Ctlgrs199473572
Max Magnitude0
ClinVar
Risk rs199473572(A;A)
Alt rs199473572(A;A)
Reference rs199473572(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38646354C>T
CLNSRC ClinVar University of Washington
CLNACC RCV000058419.2, RCV000148862.1,