BCL2, BCL2 apoptosis regulator, 596

N. diseases: 1456; N. variants: 27
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: rs17758695
rs17758695 		18 63253621 intron variant C/T snv 2.1E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs17758695
rs17758695 		18 63253621 intron variant C/T snv 2.1E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs17758695
rs17758695 		18 63253621 intron variant C/T snv 2.1E-02
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs17758695
rs17758695 		18 63253621 intron variant C/T snv 2.1E-02
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs17758695
rs17758695 		18 63253621 intron variant C/T snv 2.1E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs17758695
rs17758695 		18 63253621 intron variant C/T snv 2.1E-02
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs17758695
rs17758695 		18 63253621 intron variant C/T snv 2.1E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs17758695
rs17758695 		18 63253621 intron variant C/T snv 2.1E-02
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs17758695
rs17758695 		18 63253621 intron variant C/T snv 2.1E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs17759659
rs17759659 		0.851 0.120 18 63291411 intron variant A/G snv 0.31
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17759659
rs17759659 		0.851 0.120 18 63291411 intron variant A/G snv 0.31
CUI: C0018023
Disease: Nodular Goiter
Nodular Goiter 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17759659
rs17759659 		0.851 0.120 18 63291411 intron variant A/G snv 0.31
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17759659
rs17759659 		0.851 0.120 18 63291411 intron variant A/G snv 0.31
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2012
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders 0.020 1.000 2 2007 2007
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2012
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2012
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		Infections 0.010 1.000 1 2011 2011
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0004509
Disease: Azoospermia
Azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2001 2001
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2011 2011
dbSNP: rs1800477
rs1800477 		0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014