DOCK6, dedicator of cytokinesis 6, 57572

N. diseases: 84; N. variants: 27
Disease: Dysmorphic features ×
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: rs1280482569
rs1280482569 		1.000 19 11211990 splice donor variant ACC/- delins 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2013 2017
dbSNP: rs568049240
rs568049240 		1.000 19 11213187 stop gained C/A;T snv 7.3E-05; 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2013 2017