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rs869025494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025494(C;T)
Make rs869025494(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position136517851
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs869025494
dbSNP (classic)rs869025494
ClinGenrs869025494
ebirs869025494
HLIrs869025494
Exacrs869025494
Gnomadrs869025494
Varsomers869025494
LitVarrs869025494
Maprs869025494
PheGenIrs869025494
Biobankrs869025494
1000 genomesrs869025494
hgdprs869025494
ensemblrs869025494
geneviewrs869025494
scholarrs869025494
googlers869025494
pharmgkbrs869025494
gwascentralrs869025494
openSNPrs869025494
23andMers869025494
SNPshotrs869025494
SNPdbers869025494
MSV3drs869025494
GWAS Ctlgrs869025494
Max Magnitude0
ClinVar
Risk rs869025494(T;T)
Alt rs869025494(T;T)
Reference Rs869025494(C;C)
Significance Probable-Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene NOTCH1
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000009.11:g.139412303G>A
CLNSRC
CLNACC RCV000208487.1,