DOCK2, dedicator of cytokinesis 2, 1794

N. diseases: 40; N. variants: 15
Disease: IMMUNODEFICIENCY 40 ×
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: rs1561585424
rs1561585424 		1.000 5 169671175 splice donor variant G/A snv
CUI: C4225328
Disease: IMMUNODEFICIENCY 40
IMMUNODEFICIENCY 40 		0.700 1.000 1 2015 2015
dbSNP: rs1561898523
rs1561898523 		1.000 5 170050398 splice donor variant G/A snv
CUI: C4225328
Disease: IMMUNODEFICIENCY 40
IMMUNODEFICIENCY 40 		0.700 1.000 1 2015 2015
dbSNP: rs762909359
rs762909359 		1.000 5 170047513 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C4225328
Disease: IMMUNODEFICIENCY 40
IMMUNODEFICIENCY 40 		0.700 0
dbSNP: rs780318765
rs780318765 		1.000 5 170019037 missense variant C/T snv 8.0E-06
CUI: C4225328
Disease: IMMUNODEFICIENCY 40
IMMUNODEFICIENCY 40 		0.700 0