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: 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: 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: rs15908
rs15908 		17 47290971 synonymous variant A/C;G;T snv 0.39; 4.8E-04
CUI: C0013528
Disease: Echolalia
Echolalia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
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: rs117107187
rs117107187 		17 47252031 upstream gene variant A/G snv 5.5E-03
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs2056131
rs2056131 		1.000 0.080 17 47256377 intron variant A/G snv 0.65
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
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: rs4642
rs4642 		1.000 0.080 17 47292411 synonymous variant A/G snv 0.29 0.29
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs4642
rs4642 		1.000 0.080 17 47292411 synonymous variant A/G snv 0.29 0.29
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs4642
rs4642 		1.000 0.080 17 47292411 synonymous variant A/G snv 0.29 0.29
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs4642
rs4642 		1.000 0.080 17 47292411 synonymous variant A/G snv 0.29 0.29
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs8064853
rs8064853 		17 47285812 intron variant A/G snv 2.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8064853
rs8064853 		17 47285812 intron variant A/G snv 2.1E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
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: rs1555572829
rs1555572829 		1.000 17 47292251 missense variant A/G snv
CUI: C3854603
Disease: FNAITP
FNAITP 		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: rs79775494
rs79775494 		1.000 0.080 17 47287128 missense variant A/T snv 4.0E-06 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: rs9912177
rs9912177 		17 47285851 intron variant A/T snv 6.4E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9912177
rs9912177 		17 47285851 intron variant A/T snv 6.4E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
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: rs867671924
rs867671924 		1.000 0.080 17 47292176 missense variant C/A snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs867671924
rs867671924 		1.000 0.080 17 47292176 missense variant C/A snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs867671924
rs867671924 		1.000 0.080 17 47292176 missense variant C/A snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2006 2006