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: 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: 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: rs533722308
rs533722308
BCL2
1.000 0.080 18 63293961 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTTTT delins
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.700 1.000 1 2018 2018
dbSNP: rs7226979
rs7226979
BCL2
0.925 0.120 18 63257737 intron variant C/T snv 0.42
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.700 1.000 1 2018 2018
dbSNP: rs7226979
rs7226979
BCL2
0.925 0.120 18 63257737 intron variant C/T snv 0.42
CUI: C0002170
Disease: Alopecia
Alopecia 		0.700 1.000 1 2017 2017
dbSNP: rs8094630
rs8094630
BCL2
18 63167937 intron variant A/G;T snv 0.29
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: 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: 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: 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
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: 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: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder 		0.010 1.000 1 2010 2010
dbSNP: rs12457893
rs12457893
BCL2
1.000 0.080 18 63258928 intron variant A/C snv 0.39
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.010 1.000 1 2012 2012
dbSNP: rs1310296388
rs1310296388
BCL2
1.000 0.080 18 63318110 missense variant T/C snv 4.0E-06
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.010 1.000 1 2009 2009
dbSNP: rs1473418
rs1473418
BCL2
1.000 0.080 18 63319316 5 prime UTR variant C/G snv 0.98
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2015 2015