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: 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: rs17759659
rs17759659
BCL2
0.851 0.120 18 63291411 intron variant A/G snv 0.31
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 1.000 1 2017 2017
dbSNP: rs17759659
rs17759659
BCL2
0.851 0.120 18 63291411 intron variant A/G snv 0.31
CUI: C0018023
Disease: Nodular Goiter
Nodular Goiter 		0.010 1.000 1 2017 2017
dbSNP: rs17759659
rs17759659
BCL2
0.851 0.120 18 63291411 intron variant A/G snv 0.31
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		0.010 1.000 1 2017 2017
dbSNP: rs17759659
rs17759659
BCL2
0.851 0.120 18 63291411 intron variant A/G snv 0.31
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		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: 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: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		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: 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: 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: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0814144
Disease: endocrine system cancer
endocrine system cancer 		0.010 1.000 1 2017 2017
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2017 2017
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms 		0.010 1.000 1 2017 2017