SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 212; N. variants: 21
Disease: Platelet Count measurement ×
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: rs3184504
rs3184504 		0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 3 2011 2016
dbSNP: rs739496
rs739496 		0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 2 2010 2014
dbSNP: rs148636776
rs148636776 		0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016