SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 212; N. variants: 21
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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs3184504
rs3184504
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018