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rs28939668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28939668(A;A)
Make rs28939668(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position10652533
GeneJAG1
is asnp
is mentioned by
dbSNPrs28939668
dbSNP (classic)rs28939668
ClinGenrs28939668
ebirs28939668
HLIrs28939668
Exacrs28939668
Gnomadrs28939668
Varsomers28939668
LitVarrs28939668
Maprs28939668
PheGenIrs28939668
Biobankrs28939668
1000 genomesrs28939668
hgdprs28939668
ensemblrs28939668
geneviewrs28939668
scholarrs28939668
googlers28939668
pharmgkbrs28939668
gwascentralrs28939668
openSNPrs28939668
23andMers28939668
SNPshotrs28939668
SNPdbers28939668
MSV3drs28939668
GWAS Ctlgrs28939668
Max Magnitude0
OMIM601920
DescTETRALOGY OF FALLOT
Variant0010
Relatedalso
ClinVar
Risk rs28939668(A;A)
Alt rs28939668(A;A)
Reference Rs28939668(G;G)
Significance Pathogenic
Disease Tetralogy of Fallot
Variation info
Gene JAG1
CLNDBN Tetralogy of Fallot
Reversed 1
HGVS NC_000020.10:g.10633181C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008063.2,