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: 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: 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: 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: rs8073069
rs8073069 		0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs8073069
rs8073069 		0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs8073069
rs8073069 		0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs8073069
rs8073069 		0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs8073069
rs8073069 		0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs8073069
rs8073069 		0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33
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: rs8073069
rs8073069 		0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 < 0.001 1 2018 2018
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: 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