rs1387329667, NOTCH1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 9 136500595 missense variant G/A snv 0.010 1.000 1 2015 2015
Deformity
CUI: C0302142
Disease: Deformity
26 9 136500595 missense variant G/A snv 0.010 1.000 1 2015 2015