DOCK1, dedicator of cytokinesis 1, 1793

N. diseases: 58; N. variants: 8
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: rs767858333
rs767858333 		1.000 10 127042665 frameshift variant -/G delins 4.0E-06; 1.6E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1988 2017
dbSNP: rs767858333
rs767858333 		1.000 10 127042665 frameshift variant -/G delins 4.0E-06; 1.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 1988 2017
dbSNP: rs11017928
rs11017928 		1.000 0.120 10 127409786 intron variant G/A snv 9.2E-02
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs113847670
rs113847670 		10 127076415 intron variant C/T snv 3.3E-02
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2019 2019
dbSNP: rs113847670
rs113847670 		10 127076415 intron variant C/T snv 3.3E-02
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs115536975
rs115536975 		10 126973570 intron variant A/T snv 4.5E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs115536975
rs115536975 		10 126973570 intron variant A/T snv 4.5E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs4751240
rs4751240 		0.882 0.120 10 127338145 intron variant G/A snv 9.0E-02
CUI: C0151544
Disease: Gastrointestinal carcinoma
Gastrointestinal carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4751240
rs4751240 		0.882 0.120 10 127338145 intron variant G/A snv 9.0E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs751008
rs751008 		10 127344153 intron variant G/A snv 0.40
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2015 2015
dbSNP: rs9794336
rs9794336 		0.925 0.040 10 126979609 intron variant T/C snv 5.7E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs9794336
rs9794336 		0.925 0.040 10 126979609 intron variant T/C snv 5.7E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4635002
rs4635002 		0.925 0.080 10 127064415 intron variant A/C snv 0.92
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs4635002
rs4635002 		0.925 0.080 10 127064415 intron variant A/C snv 0.92
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs4635002
rs4635002 		0.925 0.080 10 127064415 intron variant A/C snv 0.92
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs4751240
rs4751240 		0.882 0.120 10 127338145 intron variant G/A snv 9.0E-02
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017