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: rs4987867
rs4987867
BCL2
18 63123839 3 prime UTR variant C/T snv 6.4E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4987867
rs4987867
BCL2
18 63123839 3 prime UTR variant C/T snv 6.4E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4987867
rs4987867
BCL2
18 63123839 3 prime UTR variant C/T snv 6.4E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
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: 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: rs4987855
rs4987855
BCL2
0.925 0.120 18 63126316 3 prime UTR variant C/T snv 5.9E-02
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2013 2013
dbSNP: rs4987855
rs4987855
BCL2
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 		0.800 1.000 1 2013 2013
dbSNP: rs4987853
rs4987853
BCL2
1.000 0.120 18 63126422 3 prime UTR variant T/C;G snv 0.23
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.010 1.000 1 2017 2017
dbSNP: rs4987852
rs4987852
BCL2
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 		0.800 1.000 1 2013 2013
dbSNP: rs4987852
rs4987852
BCL2
0.925 0.120 18 63126688 3 prime UTR variant T/C snv 5.1E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs4987852
rs4987852
BCL2
0.925 0.120 18 63126688 3 prime UTR variant T/C snv 5.1E-02
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2013 2013
dbSNP: rs1564483
rs1564483
BCL2
1.000 0.080 18 63127421 3 prime UTR variant C/T snv 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1564483
rs1564483
BCL2
1.000 0.080 18 63127421 3 prime UTR variant C/T snv 0.22
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs1564483
rs1564483
BCL2
1.000 0.080 18 63127421 3 prime UTR variant C/T snv 0.22
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs1564483
rs1564483
BCL2
1.000 0.080 18 63127421 3 prime UTR variant C/T snv 0.22
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2012 2012
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: 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: 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: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 1.000 1 2013 2013
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder 		0.010 1.000 1 2011 2011
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0497327
Disease: Dementia
Dementia 		0.010 1.000 1 2013 2013
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 1.000 1 2018 2018
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 1.000 1 2018 2018