NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
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: rs771237928
rs771237928
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C2698259
Disease: Monoclonal B-Cell Lymphocytosis
Monoclonal B-Cell Lymphocytosis
Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 2 2012 2012