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rs864622060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common genotype
Make rs864622060(C;C)
Make rs864622060(C;T)
ReferenceGRCh38.p7 38.3/151
Chromosome9
Position136505776
GeneNOTCH1
is asnp
is mentioned by
dbSNPrs864622060
dbSNP (classic)rs864622060
ClinGenrs864622060
ebirs864622060
HLIrs864622060
Exacrs864622060
Gnomadrs864622060
Varsomers864622060
LitVarrs864622060
Maprs864622060
PheGenIrs864622060
Biobankrs864622060
1000 genomesrs864622060
hgdprs864622060
ensemblrs864622060
geneviewrs864622060
scholarrs864622060
googlers864622060
pharmgkbrs864622060
gwascentralrs864622060
openSNPrs864622060
23andMers864622060
SNPshotrs864622060
SNPdbers864622060
MSV3drs864622060
GWAS Ctlgrs864622060
Max Magnitude0

aka NM_017617.4(NOTCH1):c.4120T>C or (p.Cys1374Arg)

OMIM pathogenic variant