SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 212; N. variants: 21
Disease: Erythrocytosis familial, 1 ×
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: rs148636776
rs148636776 		0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs202080221
rs202080221 		0.925 0.040 12 111418767 stop gained G/C;T snv 1.1E-03
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		Hemic and Lymphatic Diseases 0.700 0