NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1387329667
rs1387329667
9 136500595 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2015 2015
dbSNP: rs756434709
rs756434709
9 136514670 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2011 2011