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rs515726231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726231(-;-)
Make rs515726231(-;C)
ReferenceGRCh38 38.1/142
Chromosome9
Position136502375
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs515726231
dbSNP (classic)rs515726231
ClinGenrs515726231
ebirs515726231
HLIrs515726231
Exacrs515726231
Gnomadrs515726231
Varsomers515726231
LitVarrs515726231
Maprs515726231
PheGenIrs515726231
Biobankrs515726231
1000 genomesrs515726231
hgdprs515726231
ensemblrs515726231
geneviewrs515726231
scholarrs515726231
googlers515726231
pharmgkbrs515726231
gwascentralrs515726231
openSNPrs515726231
23andMers515726231
SNPshotrs515726231
SNPdbers515726231
MSV3drs515726231
GWAS Ctlgrs515726231
Max Magnitude0
ClinVar
Risk rs515726231(-;-)
Alt rs515726231(-;-)
Reference Rs515726231(C;C)
Significance Probable-Pathogenic
Disease Heart
Variation info
Gene NOTCH1
CLNDBN Heart, malformation of
Reversed 1
HGVS NC_000009.11:g.139396827delG
CLNSRC ClinVar
CLNACC RCV000128631.1,