DOK3, docking protein 3, 79930

N. diseases: 8; N. variants: 3
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: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C4225174
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 		0.800 1.000 2 2015 2016
dbSNP: rs337366
rs337366 		1.000 0.040 5 177503650 intron variant G/A snv 0.55
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs2279398
rs2279398 		1.000 0.080 5 177503768 3 prime UTR variant C/T snv 2.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2279398
rs2279398 		1.000 0.080 5 177503768 3 prime UTR variant C/T snv 2.7E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs869312828
rs869312828 		0.807 0.080 5 177512369 missense variant C/T snv
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017