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: rs17757541
rs17757541
BCL2
0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2015 2015
dbSNP: rs17757541
rs17757541
BCL2
0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2015 2015
dbSNP: rs17757541
rs17757541
BCL2
0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 1.000 1 2015 2015
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2015 2015
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		0.010 1.000 1 2015 2015
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: 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: 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: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs17757541
rs17757541
BCL2
0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2016 2016
dbSNP: rs17758695
rs17758695
BCL2
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
BCL2
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
BCL2
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
BCL2
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
BCL2
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
BCL2
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: rs187971642
rs187971642
BCL2
18 63213468 intron variant T/C snv 4.1E-03
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0278725
Disease: Small cell lung cancer limited stage
Small cell lung cancer limited stage 		0.010 1.000 1 2016 2016
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2016 2016
dbSNP: rs3744935
rs3744935
BCL2
0.882 0.080 18 63127447 3 prime UTR variant C/T snv 6.0E-03
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2016 2016
dbSNP: rs3744935
rs3744935
BCL2
0.882 0.080 18 63127447 3 prime UTR variant C/T snv 6.0E-03
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2016 2016
dbSNP: rs3744935
rs3744935
BCL2
0.882 0.080 18 63127447 3 prime UTR variant C/T snv 6.0E-03
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs4987856
rs4987856
BCL2
0.925 0.120 18 63126261 3 prime UTR variant C/T snv 6.0E-02
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2016 2016
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