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rs199473326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473326(A;G)
Make rs199473326(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38550646
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473326
dbSNP (classic)rs199473326
ClinGenrs199473326
ebirs199473326
HLIrs199473326
Exacrs199473326
Gnomadrs199473326
Varsomers199473326
LitVarrs199473326
Maprs199473326
PheGenIrs199473326
Biobankrs199473326
1000 genomesrs199473326
hgdprs199473326
ensemblrs199473326
geneviewrs199473326
scholarrs199473326
googlers199473326
pharmgkbrs199473326
gwascentralrs199473326
openSNPrs199473326
23andMers199473326
SNPshotrs199473326
SNPdbers199473326
MSV3drs199473326
GWAS Ctlgrs199473326
Max Magnitude0
ClinVar
Risk rs199473326(G;G)
Alt rs199473326(G;G)
Reference Rs199473326(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Cardiovascular phenotype
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome not provided Cardiovascular phenotype
Reversed 1
HGVS NC_000003.11:g.38592137T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000058803.3, RCV000183131.1, RCV000244977.1,