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: 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
dbSNP: rs17659990
rs17659990 		0.790 0.080 3 50713718 intron variant C/T snv 2.1E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2609031
rs2609031 		1.000 0.040 3 50820365 intron variant C/T snv 9.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4286453
rs4286453 		1.000 0.040 3 51104928 intron variant C/T snv 0.90
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4478114
rs4478114 		1.000 0.040 3 51114216 intron variant C/T snv 0.90
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1553749681
rs1553749681 		0.925 3 51064514 stop gained C/T snv
CUI: C4749014
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 0
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: 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: 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: 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: rs2675835
rs2675835 		1.000 0.040 3 50825309 intron variant G/A snv 9.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4927961
rs4927961 		1.000 0.040 3 51072764 intron variant G/A snv 6.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs73072483
rs73072483 		3 50734193 intron variant G/A snv 9.6E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs4443210
rs4443210 		1.000 0.040 3 51030131 intron variant G/A;C;T snv
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: rs6445600
rs6445600 		1.000 0.040 3 51050461 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2675810
rs2675810 		1.000 0.040 3 50751155 intron variant G/C snv 9.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2219431
rs2219431 		1.000 0.040 3 50837715 intron variant G/T snv 9.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017