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: rs9912177
rs9912177 		17 47285851 intron variant A/T snv 6.4E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1057518837
rs1057518837 		17 47299316 stop gained C/T snv
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1057518837
rs1057518837 		17 47299316 stop gained C/T snv
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		0.700 0
dbSNP: rs1057518838
rs1057518838 		17 47286394 missense variant A/G snv
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1057518838
rs1057518838 		17 47286394 missense variant A/G snv
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		0.700 0
dbSNP: rs121918450
rs121918450 		1.000 0.080 17 47307584 stop gained C/T snv 4.4E-05 1.5E-04
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918451
rs121918451 		1.000 0.080 17 47300488 stop gained G/T snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs13306476
rs13306476 		1.000 0.080 17 47287209 missense variant A/C;G snv 4.0E-06; 8.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555572829
rs1555572829 		1.000 17 47292251 missense variant A/G snv
CUI: C3854603
Disease: FNAITP
FNAITP 		0.700 0
dbSNP: rs1567764064
rs1567764064 		1.000 0.080 17 47283513 frameshift variant G/- del
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs398122373
rs398122373 		1.000 0.080 17 47302841 splice donor variant G/C snv
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: 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: rs749261962
rs749261962 		1.000 0.080 17 47287068 splice acceptor variant A/G snv 8.0E-06 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs767548512
rs767548512 		1.000 0.080 17 47284529 missense variant A/C;G snv 4.0E-06; 4.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs77963874
rs77963874 		1.000 0.080 17 47284512 missense variant T/G snv 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs79208797
rs79208797 		1.000 0.080 17 47286310 missense variant T/C snv 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 0.667 3 2005 2010
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 0.667 3 2005 2010
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 0.667 3 2005 2010
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: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0010072
Disease: Coronary Thrombosis
Coronary Thrombosis 		Cardiovascular Diseases 0.020 1.000 2 2004 2014
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2005 2015
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2005 2016
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 0.500 2 1997 2018
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2015 2017