DOCK3, dedicator of cytokinesis 3, 1795

N. diseases: 85; N. variants: 51
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: rs1553749681
rs1553749681 		0.925 3 51064514 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 23 2000 2018
dbSNP: rs1553749681
rs1553749681 		0.925 3 51064514 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 23 2000 2018
dbSNP: rs1553749681
rs1553749681 		0.925 3 51064514 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 23 2000 2018
dbSNP: rs142515812
rs142515812 		1.000 3 51361872 missense variant A/T snv 1.3E-03 1.2E-03
CUI: C4749014
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 1.000 3 2017 2019
dbSNP: rs199600118
rs199600118 		1.000 3 51214170 missense variant G/A snv 6.2E-04 7.0E-04
CUI: C4749014
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 1.000 3 2017 2019
dbSNP: rs201184598
rs201184598 		1.000 3 51341357 missense variant A/G snv 2.5E-04 2.0E-04
CUI: C4749014
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 1.000 3 2017 2019
dbSNP: rs13088462
rs13088462 		3 51034282 intron variant T/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2014
dbSNP: rs73072483
rs73072483 		3 50734193 intron variant G/A snv 9.6E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs10510754
rs10510754 		1.000 0.040 3 50824180 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10510757
rs10510757 		3 51372633 intron variant C/G snv 6.6E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11130263
rs11130263 		1.000 0.040 3 50894893 intron variant G/A snv 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11917538
rs11917538 		1.000 0.040 3 50835545 intron variant G/A snv 0.77
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11920441
rs11920441 		3 51062589 intron variant T/C snv 0.26
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11921930
rs11921930 		1.000 0.040 3 50859955 intron variant G/A snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13069365
rs13069365 		3 50979528 intron variant G/A;T snv
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs13088462
rs13088462 		3 51034282 intron variant T/C;G snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs1552074
rs1552074 		3 51370620 intron variant C/T snv 0.88
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17659990
rs17659990 		0.790 0.080 3 50713718 intron variant C/T snv 2.1E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17659990
rs17659990 		0.790 0.080 3 50713718 intron variant C/T snv 2.1E-02
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2017 2017
dbSNP: rs17659990
rs17659990 		0.790 0.080 3 50713718 intron variant C/T snv 2.1E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17659990
rs17659990 		0.790 0.080 3 50713718 intron variant C/T snv 2.1E-02
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17659990
rs17659990 		0.790 0.080 3 50713718 intron variant C/T snv 2.1E-02
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17659990
rs17659990 		0.790 0.080 3 50713718 intron variant C/T snv 2.1E-02
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2017 2017
dbSNP: rs17659990
rs17659990 		0.790 0.080 3 50713718 intron variant C/T snv 2.1E-02
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2017 2017
dbSNP: rs17659990
rs17659990 		0.790 0.080 3 50713718 intron variant C/T snv 2.1E-02
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2017 2017