DCK, deoxycytidine kinase, 1633

N. diseases: 102; N. variants: 6
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: rs9993633
rs9993633 		1.000 4 70997893 intron variant G/A snv 0.11
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2019 2019
dbSNP: rs9993633
rs9993633 		1.000 4 70997893 intron variant G/A snv 0.11
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs9993633
rs9993633 		1.000 4 70997893 intron variant G/A snv 0.11
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.700 1.000 1 2019 2019
dbSNP: rs9993633
rs9993633 		1.000 4 70997893 intron variant G/A snv 0.11
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2019 2019
dbSNP: rs9993633
rs9993633 		1.000 4 70997893 intron variant G/A snv 0.11
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs9997790
rs9997790 		4 70993963 missense variant G/A;C snv 4.3E-06; 1.5E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs9997790
rs9997790 		4 70993963 missense variant G/A;C snv 4.3E-06; 1.5E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs2306744
rs2306744 		0.925 0.080 4 70993635 5 prime UTR variant C/A;G;T snv
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		Digestive System Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2306744
rs2306744 		0.925 0.080 4 70993635 5 prime UTR variant C/A;G;T snv
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		0.010 1.000 1 2017 2017
dbSNP: rs4643786
rs4643786 		0.925 0.040 4 71029543 3 prime UTR variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs4643786
rs4643786 		0.925 0.040 4 71029543 3 prime UTR variant C/G;T snv
CUI: C3839868
Disease: Cytogenetically normal acute myeloid leukemia
Cytogenetically normal acute myeloid leukemia 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4694362
rs4694362 		4 71028147 intron variant C/T snv 0.49
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs67437265
rs67437265 		0.925 0.160 4 71022523 missense variant C/T snv 1.8E-02 2.3E-02
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs67437265
rs67437265 		0.925 0.160 4 71022523 missense variant C/T snv 1.8E-02 2.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2016 2016