SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 26; N. variants: 15
Disease: Primary Myelofibrosis ×
Source: CURATED ×
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: rs587776885
rs587776885 		1.000 0.040 12 111418745 frameshift variant GCGCT/- delins
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.700 0