DCTN6, dynactin subunit 6, 10671

N. diseases: 315; N. variants: 4
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: rs568887534
rs568887534 		0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2015 2017
dbSNP: rs10096097
rs10096097 		1.000 0.040 8 30169582 intron variant G/A snv 0.62
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs568887534
rs568887534 		0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs568887534
rs568887534 		0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs568887534
rs568887534 		0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs568887534
rs568887534 		0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs568887534
rs568887534 		0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs568887534
rs568887534 		0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs568887534
rs568887534 		0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs568887534
rs568887534 		0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs760330563
rs760330563 		1.000 0.120 8 30180515 missense variant C/T snv 4.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs78669402
rs78669402 		1.000 0.120 8 30179413 missense variant C/A;G snv 6.4E-05; 4.0E-06
CUI: C2676191
Disease: PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder) 		Neoplasms; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012