DOCK7, dedicator of cytokinesis 7, 85440

N. diseases: 51; N. variants: 192
Disease: Hypochondroplasia (disorder) ×
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: rs10889332
rs10889332 		1.000 0.120 1 62485187 3 prime UTR variant C/T snv 0.39
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1168013
rs1168013 		1.000 0.120 1 62531167 intron variant C/G;T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016