CDA, cytidine deaminase, 978

N. diseases: 103; N. variants: 9
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: rs139089160
rs139089160 		1 20592062 intron variant G/A;T snv
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs66731853
rs66731853 		1 20589745 intron variant G/A snv 0.23
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.050 0.800 5 2010 2019
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.030 1.000 3 2012 2019
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.030 1.000 3 2009 2015
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.030 1.000 3 2012 2019
dbSNP: rs60369023
rs60369023 		0.851 0.240 1 20604981 missense variant G/A snv 2.6E-04 1.5E-04
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2019
dbSNP: rs1048977
rs1048977 		1.000 0.080 1 20618562 synonymous variant C/T snv 0.31 0.34
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1048977
rs1048977 		1.000 0.080 1 20618562 synonymous variant C/T snv 0.31 0.34
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs10916832
rs10916832 		1.000 0.040 1 20619151 downstream gene variant C/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0238644
Disease: Anemia, severe
Anemia, severe 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2072671
rs2072671 		0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3215400
rs3215400 		1.000 0.080 1 20589097 5 prime UTR variant C/- delins 0.54 0.56
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs532545
rs532545 		0.882 0.160 1 20588679 upstream gene variant C/A;T snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs532545
rs532545 		0.882 0.160 1 20588679 upstream gene variant C/A;T snv
CUI: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		Digestive System Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017