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: 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: 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: 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: rs720321
rs720321
BCL2
1.000 0.080 18 63215417 intron variant G/A snv 0.21
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 1.000 1 2011 2011
dbSNP: rs7226979
rs7226979
BCL2
0.925 0.120 18 63257737 intron variant C/T snv 0.42
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		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: 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
dbSNP: rs780634396
rs780634396
BCL2
0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2010 2010
dbSNP: rs8094315
rs8094315
BCL2
1.000 0.080 18 63268814 intron variant A/G snv 0.17
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.010 1.000 1 2012 2012
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
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		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: C0948853
Disease: Euthymia
Euthymia 		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: C0006012
Disease: Borderline Personality Disorder
Borderline Personality 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2018 2018
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: 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