SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 212; N. variants: 21
Disease: Diastolic blood pressure ×
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: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 10 2009 2019
dbSNP: rs7310615
rs7310615 		0.882 12 111427245 intron variant C/G snv 0.67
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018