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: 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: 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: 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: rs3764383
rs3764383 		1.000 0.080 17 78212770 upstream gene variant C/G;T snv
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: rs4789551
rs4789551 		1.000 0.080 17 78214998 3 prime UTR variant T/C snv 0.11
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: rs8073903
rs8073903 		1.000 0.080 17 78213673 upstream gene variant T/C snv 0.41
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
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
dbSNP: rs2239680
rs2239680 		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 		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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 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
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