NOTCH1, notch 1, 4851

N. diseases: 389; N. variants: 34
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: rs756434709
9 136514670 missense variant C/T snp 2.0E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2011 2011