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rs72549410

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 5 Romano-Ward Long QT Syndrome
(G;G) 0 common in clinvar


Make rs72549410(A;A)
ReferenceGRCh38 38.1/142
Chromosome3
Position38606058
GeneSCN5A
is asnp
is mentioned by
dbSNPrs72549410
dbSNP (classic)rs72549410
ClinGenrs72549410
ebirs72549410
HLIrs72549410
Exacrs72549410
Gnomadrs72549410
Varsomers72549410
LitVarrs72549410
Maprs72549410
PheGenIrs72549410
Biobankrs72549410
1000 genomesrs72549410
hgdprs72549410
ensemblrs72549410
geneviewrs72549410
scholarrs72549410
googlers72549410
pharmgkbrs72549410
gwascentralrs72549410
openSNPrs72549410
23andMers72549410
SNPshotrs72549410
SNPdbers72549410
MSV3drs72549410
GWAS Ctlgrs72549410
Max Magnitude5


ClinVar
Risk rs72549410(A;A)
Alt rs72549410(A;A)
Reference Rs72549410(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not provided Brugada syndrome Long QT syndrome 3
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome Long QT syndrome not provided Brugada syndrome Long QT syndrome 3
Reversed 1
HGVS NC_000003.11:g.38647549C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058408.3, RCV000157478.1, RCV000182964.4, RCV000197436.3, RCV000234790.1,