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rs45563942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs45563942(C;C)
Make rs45563942(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position38550865
GeneSCN5A
is asnp
is mentioned by
dbSNPrs45563942
dbSNP (classic)rs45563942
ClinGenrs45563942
ebirs45563942
HLIrs45563942
Exacrs45563942
Gnomadrs45563942
Varsomers45563942
LitVarrs45563942
Maprs45563942
PheGenIrs45563942
Biobankrs45563942
1000 genomesrs45563942
hgdprs45563942
ensemblrs45563942
geneviewrs45563942
scholarrs45563942
googlers45563942
pharmgkbrs45563942
gwascentralrs45563942
openSNPrs45563942
23andMers45563942
SNPshotrs45563942
SNPdbers45563942
MSV3drs45563942
GWAS Ctlgrs45563942
GMAF0.001837
Max Magnitude0
ClinVar
Risk rs45563942(C;C)
Alt rs45563942(C;C)
Reference Rs45563942(T;T)
Significance Pathogenic
Disease Dilated cardiomyopathy 1E not provided Primary dilated cardiomyopathy not specified Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Dilated cardiomyopathy 1E not provided Primary dilated cardiomyopathy not specified Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38592356A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032640.3, RCV000058788.5, RCV000148847.1, RCV000212993.2, RCV000458526.1,