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: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs17758695
rs17758695
BCL2
18 63253621 intron variant C/T snv 2.1E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs17758695
rs17758695
BCL2
18 63253621 intron variant C/T snv 2.1E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs17758695
rs17758695
BCL2
18 63253621 intron variant C/T snv 2.1E-02
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs17758695
rs17758695
BCL2
18 63253621 intron variant C/T snv 2.1E-02
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs17758695
rs17758695
BCL2
18 63253621 intron variant C/T snv 2.1E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs17758695
rs17758695
BCL2
18 63253621 intron variant C/T snv 2.1E-02
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs17758695
rs17758695
BCL2
18 63253621 intron variant C/T snv 2.1E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
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: 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: 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: rs4940576
rs4940576
BCL2
0.925 0.040 18 63181406 intron variant T/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 2 2015 2017
dbSNP: rs4940576
rs4940576
BCL2
0.925 0.040 18 63181406 intron variant T/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2015 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: 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
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: 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