BIRC5, baculoviral IAP repeat containing 5, 332

N. diseases: 199; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17879146
rs17879146
0.925 0.040 17 78223864 3 prime UTR variant T/G snv 1.2E-02 1.2E-02
CUI: C0031099
Disease: Periodontitis
Periodontitis
Stomatognathic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs17879146
rs17879146
0.925 0.040 17 78223864 3 prime UTR variant T/G snv 1.2E-02 1.2E-02
CUI: C0600298
Disease: Periodontosis
Periodontosis
Stomatognathic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9904341
rs9904341
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
Neoplasms 0.080 1.000 8 2012 2020
dbSNP: rs9904341
rs9904341
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
Neoplasms 0.080 1.000 8 2012 2020
dbSNP: rs17878467
rs17878467
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.030 0.667 3 2019 2020
dbSNP: rs17878467
rs17878467
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.030 0.667 3 2019 2020
dbSNP: rs9904341
rs9904341
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
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2018 2019
dbSNP: rs9904341
rs9904341
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2013 2014
dbSNP: rs9904341
rs9904341
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
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2018 2019
dbSNP: rs1042489
rs1042489
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
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1042489
rs1042489
0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1042489
rs1042489
0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1042489
rs1042489
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
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1042489
rs1042489
0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs17878467
rs17878467
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs17878467
rs17878467
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs17878467
rs17878467
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs17878467
rs17878467
0.925 0.080 17 78214076 upstream gene variant C/G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs17878624
rs17878624
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
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2071214
rs2071214
17 78223510 missense variant G/A snv 0.93 0.96
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs2071214
rs2071214
17 78223510 missense variant G/A snv 0.93 0.96
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs2071214
rs2071214
17 78223510 missense variant G/A snv 0.93 0.96
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs2239680
rs2239680
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
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2239680
rs2239680
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
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2239680
rs2239680
0.827 0.120 17 78223702 3 prime UTR variant T/C snv 0.27 0.24
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018