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: 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: rs73316435
rs73316435 		0.882 17 47252111 upstream gene variant C/A;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs73316435
rs73316435 		0.882 17 47252111 upstream gene variant C/A;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs73316435
rs73316435 		0.882 17 47252111 upstream gene variant C/A;T snv
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs73316435
rs73316435 		0.882 17 47252111 upstream gene variant C/A;T snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs73316435
rs73316435 		0.882 17 47252111 upstream gene variant C/A;T snv
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs2317385
rs2317385 		1.000 0.040 17 47252316 upstream gene variant G/A snv 0.23
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs55827077
rs55827077 		1.000 0.040 17 47253717 upstream gene variant G/C snv 0.23
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
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: 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: 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
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2011 2014
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2009 2015
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2005 2006
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2005 2006
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 < 0.001 1 2015 2015