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: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 1.000 6 2014 2017
dbSNP: rs12454712
rs12454712
BCL2
0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 5 2016 2019
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2014 2017
dbSNP: rs12454712
rs12454712
BCL2
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 		0.800 1.000 3 2012 2019
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: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.030 0.667 3 2011 2016
dbSNP: rs12454712
rs12454712
BCL2
0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2019
dbSNP: rs17757541
rs17757541
BCL2
0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.020 1.000 2 2013 2015
dbSNP: rs17758695
rs17758695
BCL2
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: rs17758695
rs17758695
BCL2
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
BCL2
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
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: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		0.020 1.000 2 2015 2017
dbSNP: rs4940576
rs4940576
BCL2
0.925 0.040 18 63181406 intron variant T/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 2 2015 2017
dbSNP: rs4940576
rs4940576
BCL2
0.925 0.040 18 63181406 intron variant T/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2015 2017
dbSNP: rs4987856
rs4987856
BCL2
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 		0.800 1.000 2 2013 2016
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		0.020 0.500 2 2011 2013
dbSNP: rs12454712
rs12454712
BCL2
0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 1.000 1 2010 2010
dbSNP: rs12454712
rs12454712
BCL2
0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs12454712
rs12454712
BCL2
0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs12454712
rs12454712
BCL2
0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder 		0.010 1.000 1 2010 2010