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: rs3744935
rs3744935 		0.882 0.080 18 63127447 3 prime UTR variant C/T snv 6.0E-03
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs780634396
rs780634396 		0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs4987856
rs4987856 		0.925 0.120 18 63126261 3 prime UTR variant C/T snv 6.0E-02
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2013 2016
dbSNP: rs4987852
rs4987852 		0.925 0.120 18 63126688 3 prime UTR variant T/C snv 5.1E-02
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs4987855
rs4987855 		0.925 0.120 18 63126316 3 prime UTR variant C/T snv 5.9E-02
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs956572
rs956572 		0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
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: rs1801018
rs1801018 		0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1310296388
rs1310296388 		1.000 0.080 18 63318110 missense variant T/C snv 4.0E-06
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17757541
rs17757541 		0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17757541
rs17757541 		0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17757541
rs17757541 		0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs956572
rs956572 		0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
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: rs12454712
rs12454712 		0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 3 2012 2019
dbSNP: rs1801018
rs1801018 		0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2279115
rs2279115 		0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2279115
rs2279115 		0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0814144
Disease: endocrine system cancer
endocrine system cancer 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017
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: 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: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2007 2012
dbSNP: rs956572
rs956572 		0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0948853
Disease: Euthymia
Euthymia 		0.010 1.000 1 2013 2013
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: rs17758695
rs17758695 		18 63253621 intron variant C/T snv 2.1E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs12454712
rs12454712 		0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder 		Mental Disorders 0.010 1.000 1 2010 2010