Source: BEFREE

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: 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: 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: 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: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 1.000 1 2015 2015
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
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: 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: 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: 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: 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: 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: 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: 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: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		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: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		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: 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: 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