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: rs9904341
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 1.000 8 2012 2020
dbSNP: rs9904341
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.080 1.000 8 2012 2020
dbSNP: rs17878467
rs17878467
BIRC5
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 0.667 3 2019 2020
dbSNP: rs17878467
rs17878467
BIRC5
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2019 2020
dbSNP: rs9904341
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2018 2019
dbSNP: rs9904341
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2018 2019
dbSNP: rs9904341
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.020 1.000 2 2013 2014
dbSNP: rs1042489
rs1042489
BIRC5
0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1042489
rs1042489
BIRC5
0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 < 0.001 1 2013 2013
dbSNP: rs1042489
rs1042489
BIRC5
0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1042489
rs1042489
BIRC5
0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1042489
rs1042489
BIRC5
0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2018 2018
dbSNP: rs17878467
rs17878467
BIRC5
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs17878467
rs17878467
BIRC5
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2014 2014
dbSNP: rs17878467
rs17878467
BIRC5
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2019 2019
dbSNP: rs17878467
rs17878467
BIRC5
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs17878624
rs17878624
BIRC5
1.000 0.080 17 78224418 3 prime UTR variant G/A snv 5.0E-04
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2071214
rs2071214
BIRC5
17 78223510 missense variant G/A snv 0.93 0.96
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2020 2020
dbSNP: rs2071214
rs2071214
BIRC5
17 78223510 missense variant G/A snv 0.93 0.96
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2020 2020
dbSNP: rs2071214
rs2071214
BIRC5
17 78223510 missense variant G/A snv 0.93 0.96
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 < 0.001 1 2013 2013
dbSNP: rs2239680
rs2239680
BIRC5
0.827 0.120 17 78223702 3 prime UTR variant T/C snv 0.27 0.24
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2013 2013
dbSNP: rs2239680
rs2239680
BIRC5
0.827 0.120 17 78223702 3 prime UTR variant T/C snv 0.27 0.24
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2239680
rs2239680
BIRC5
0.827 0.120 17 78223702 3 prime UTR variant T/C snv 0.27 0.24
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2018 2018
dbSNP: rs2239680
rs2239680
BIRC5
0.827 0.120 17 78223702 3 prime UTR variant T/C snv 0.27 0.24
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2013 2013
dbSNP: rs2239680
rs2239680
BIRC5
0.827 0.120 17 78223702 3 prime UTR variant T/C snv 0.27 0.24
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2013 2013