ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
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: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C0024232
Disease: Lymphatic Metastasis
Lymphatic Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3809865
rs3809865 		0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2317676
rs2317676 		0.882 0.160 17 47310917 3 prime UTR variant A/G snv 9.4E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2017 2017
dbSNP: rs2317676
rs2317676 		0.882 0.160 17 47310917 3 prime UTR variant A/G snv 9.4E-02
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2317676
rs2317676 		0.882 0.160 17 47310917 3 prime UTR variant A/G snv 9.4E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1226052130
rs1226052130 		0.925 0.120 17 47299308 missense variant G/A snv 4.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1226052130
rs1226052130 		0.925 0.120 17 47299308 missense variant G/A snv 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs398122374
rs398122374 		0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs398122374
rs398122374 		0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs398122374
rs398122374 		0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918444
rs121918444 		1.000 0.080 17 47286364 missense variant G/A snv 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 19 1990 2017
dbSNP: rs121918445
rs121918445 		1.000 0.080 17 47284514 missense variant G/T snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 19 1990 2017
dbSNP: rs121918446
rs121918446 		1.000 0.080 17 47286363 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 19 1990 2017
dbSNP: rs121918447
rs121918447 		1.000 0.080 17 47310169 missense variant T/C snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 19 1990 2017
dbSNP: rs121918449
rs121918449 		1.000 0.080 17 47291027 missense variant G/A snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 19 1990 2017