DCTN4, dynactin subunit 4, 51164

N. diseases: 253; 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: rs35772018
rs35772018 		0.925 0.160 5 150730677 missense variant T/C snv 1.3E-02 1.3E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7731017
rs7731017 		0.925 0.080 5 150732056 intron variant T/C snv 8.3E-03
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7731017
rs7731017 		0.925 0.080 5 150732056 intron variant T/C snv 8.3E-03
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs144113005
rs144113005 		1.000 0.080 5 150753600 synonymous variant C/T snv 2.7E-04 2.2E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2015 2019
dbSNP: rs35772018
rs35772018 		0.925 0.160 5 150730677 missense variant T/C snv 1.3E-02 1.3E-02
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs371557337
rs371557337 		1.000 0.040 5 150733475 start lost T/C;G snv 7.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs371557337
rs371557337 		1.000 0.040 5 150733475 start lost T/C;G snv 7.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2016 2016