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rs515726232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs515726232(A;A)
Make rs515726232(A;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position136515289
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs515726232
dbSNP (classic)rs515726232
ClinGenrs515726232
ebirs515726232
HLIrs515726232
Exacrs515726232
Gnomadrs515726232
Varsomers515726232
LitVarrs515726232
Maprs515726232
PheGenIrs515726232
Biobankrs515726232
1000 genomesrs515726232
hgdprs515726232
ensemblrs515726232
geneviewrs515726232
scholarrs515726232
googlers515726232
pharmgkbrs515726232
gwascentralrs515726232
openSNPrs515726232
23andMers515726232
SNPshotrs515726232
SNPdbers515726232
MSV3drs515726232
GWAS Ctlgrs515726232
Max Magnitude0
ClinVar
Risk rs515726232(A;A)
Alt rs515726232(A;A)
Reference Rs515726232(G;G)
Significance Probable-Pathogenic
Disease Heart
Variation info
Gene NOTCH1
CLNDBN Heart, malformation of
Reversed 1
HGVS NC_000009.11:g.139409741C>T
CLNSRC ClinVar
CLNACC RCV000128629.1,