DOCK6, dedicator of cytokinesis 6, 57572

N. diseases: 84; N. variants: 27
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: rs374530179
rs374530179
1.000 0.080 19 11212067 stop gained G/A snv 2.0E-05 2.1E-05
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs730882238
rs730882238
0.925 0.080 19 11243279 frameshift variant TTAG/- delins 9.8E-05
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0