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: 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: 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: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
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: 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: rs5918
rs5918 		0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12603582
rs12603582 		1.000 0.040 17 47300211 intron variant G/T snv 0.18
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2011 2011
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: 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: 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: 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
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: rs1057518838
rs1057518838 		17 47286394 missense variant A/G snv
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		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: 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: 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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2005 2016
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: 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: 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: 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: 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