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: 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: 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: 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
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
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: rs9904341
rs9904341 		0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 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: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9904341
rs9904341 		0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs9904341
rs9904341 		0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs9904341
rs9904341 		0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9904341
rs9904341 		0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2014 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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 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: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs9904341
rs9904341 		0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 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: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs9904341
rs9904341 		0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9904341
rs9904341 		0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 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: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		0.010 1.000 1 2013 2013
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