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: 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: rs747504890
rs747504890 		0.925 0.080 18 63318285 missense variant C/T snv 2.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2002 2004
dbSNP: rs747504890
rs747504890 		0.925 0.080 18 63318285 missense variant C/T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2002 2004
dbSNP: rs747504890
rs747504890 		0.925 0.080 18 63318285 missense variant C/T snv 2.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2003 2003
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: 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: rs1801018
rs1801018 		0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs12454712
rs12454712 		0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2010 2010
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
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: 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: rs780634396
rs780634396 		0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs780634396
rs780634396 		0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs780634396
rs780634396 		0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs780634396
rs780634396 		0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs956572
rs956572 		0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.030 0.667 3 2011 2016
dbSNP: rs956572
rs956572 		0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.020 0.500 2 2011 2013
dbSNP: rs17757541
rs17757541 		0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 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: 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: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2011 2011
dbSNP: rs720321
rs720321 		1.000 0.080 18 63215417 intron variant G/A snv 0.21
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs956572
rs956572 		0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder 		Mental Disorders 0.010 1.000 1 2011 2011