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rs863224901

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224901(-;-)
Make rs863224901(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136513108
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs863224901
dbSNP (classic)rs863224901
ClinGenrs863224901
ebirs863224901
HLIrs863224901
Exacrs863224901
Gnomadrs863224901
Varsomers863224901
LitVarrs863224901
Maprs863224901
PheGenIrs863224901
Biobankrs863224901
1000 genomesrs863224901
hgdprs863224901
ensemblrs863224901
geneviewrs863224901
scholarrs863224901
googlers863224901
pharmgkbrs863224901
gwascentralrs863224901
openSNPrs863224901
23andMers863224901
SNPshotrs863224901
SNPdbers863224901
MSV3drs863224901
GWAS Ctlgrs863224901
Max Magnitude0
ClinVar
Risk rs863224901(-;-)
Alt rs863224901(-;-)
Reference Rs863224901(G;G)
Significance Probable-Pathogenic
Disease Aortic valve disorder
Variation info
Gene NOTCH1
CLNDBN Aortic valve disorder
Reversed 1
HGVS NC_000009.11:g.139407560delC
CLNSRC
CLNACC RCV000198418.1,