Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801018
rs1801018
BCL2
0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.010 1.000 1 2017 2017
dbSNP: rs1801018
rs1801018
BCL2
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 		0.010 1.000 1 2017 2017
dbSNP: rs1801018
rs1801018
BCL2
0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs1801018
rs1801018
BCL2
0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2009 2009
dbSNP: rs1801018
rs1801018
BCL2
0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1801018
rs1801018
BCL2
0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1800477
rs1800477
BCL2
0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.020 1.000 2 2007 2012
dbSNP: rs1800477
rs1800477
BCL2
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 		0.020 1.000 2 2007 2007
dbSNP: rs1800477
rs1800477
BCL2
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 		0.020 1.000 2 2007 2012
dbSNP: rs1800477
rs1800477
BCL2
0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.020 1.000 2 2007 2012
dbSNP: rs1800477
rs1800477
BCL2
0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 1.000 1 2011 2011
dbSNP: rs1800477
rs1800477
BCL2
0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2010 2010
dbSNP: rs1800477
rs1800477
BCL2
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 		0.010 1.000 1 2012 2012
dbSNP: rs1800477
rs1800477
BCL2
0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1800477
rs1800477
BCL2
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 		0.010 < 0.001 1 2001 2001
dbSNP: rs1800477
rs1800477
BCL2
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 		0.010 1.000 1 2017 2017
dbSNP: rs1800477
rs1800477
BCL2
0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2011 2011
dbSNP: rs1800477
rs1800477
BCL2
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 		0.010 1.000 1 2014 2014
dbSNP: rs747504890
rs747504890
BCL2
0.925 0.080 18 63318285 missense variant C/T snv 2.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2002 2004
dbSNP: rs747504890
rs747504890
BCL2
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 		0.030 1.000 3 2002 2004
dbSNP: rs747504890
rs747504890
BCL2
0.925 0.080 18 63318285 missense variant C/T snv 2.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2003 2003
dbSNP: rs780634396
rs780634396
BCL2
0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs780634396
rs780634396
BCL2
0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs780634396
rs780634396
BCL2
0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs780634396
rs780634396
BCL2
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 		0.010 1.000 1 2010 2010