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rs515726233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs515726233(G;T)
Make rs515726233(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position136503288
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs515726233
dbSNP (classic)rs515726233
ClinGenrs515726233
ebirs515726233
HLIrs515726233
Exacrs515726233
Gnomadrs515726233
Varsomers515726233
LitVarrs515726233
Maprs515726233
PheGenIrs515726233
Biobankrs515726233
1000 genomesrs515726233
hgdprs515726233
ensemblrs515726233
geneviewrs515726233
scholarrs515726233
googlers515726233
pharmgkbrs515726233
gwascentralrs515726233
openSNPrs515726233
23andMers515726233
SNPshotrs515726233
SNPdbers515726233
MSV3drs515726233
GWAS Ctlgrs515726233
Max Magnitude0
ClinVar
Risk rs515726233(T;T)
Alt rs515726233(T;T)
Reference Rs515726233(G;G)
Significance Probable-Pathogenic
Disease Heart
Variation info
Gene NOTCH1
CLNDBN Heart, malformation of
Reversed 1
HGVS NC_000009.11:g.139397740C>A
CLNSRC ClinVar
CLNACC RCV000128630.1,