DOCK7, dedicator of cytokinesis 7, 85440

N. diseases: 51; N. variants: 192
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: rs1479675678
rs1479675678 		1.000 1 62513588 stop gained G/A;C snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 2 2006 2014
dbSNP: rs1553163123
rs1553163123 		1.000 1 62528151 splice region variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 2 2006 2014