ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918447
rs121918447
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0040015
Disease:
Thrombasthenia
0.810 GeneticVariation BEFREE Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. 1438206 1992
dbSNP: rs121918449
rs121918449
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease:
Thrombasthenia
0.810 GeneticVariation BEFREE A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia. 8781422 1996
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. 17220212 2007
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. 19876733 2010
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0919267
Disease:
ovarian neoplasm
0.030 GeneticVariation BEFREE The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. 19876733 2010
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0919267
Disease:
ovarian neoplasm
0.030 GeneticVariation BEFREE Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. 17220212 2007
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0919267
Disease:
ovarian neoplasm
0.030 GeneticVariation BEFREE Integrin beta(3) Leu33Pro homozygotes have an increased risk of ovarian cancer. 16322334 2005
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk. 17220212 2007
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE Integrin beta(3) Leu33Pro homozygotes have an increased risk of ovarian cancer. 16322334 2005
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE The ITGB3 Leu33Pro polymorphism does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. 19876733 2010
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE Integrin beta(3) Leu33Pro homozygotes have an increased risk of ovarian cancer. 16322334 2005
dbSNP: rs2317676
rs2317676
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE The high-risk interactive genotypes of rs20417, rs1371097 and rs2317676 were independently associated with primary adverse outcome of RIS, MI, and death after acute IS. 28344655 2017
dbSNP: rs2317676
rs2317676
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE The rs17110453A>C, rs2317676A>G, and rs16863323C>T three-loci interaction may confer a higher risk for IS. 29050321 2017
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE Herein, we evaluated the predictive potential of three germline single nucleotide polymorphisms (SNPs) in the integrin β3 gene (rs3809865, rs5918 and rs4642) to predict the risk of venous thromboembolism (VTE) in colorectal cancer (CRC) patients, which is one of the leading causes of death among cancer patients. 26440977 2015
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0010072
Disease:
Coronary Thrombosis
0.020 GeneticVariation BEFREE A common isoform of integrin β3, Leu33Pro is associated with enhanced platelet function and increased risk for coronary thrombosis and stroke, although these findings remain controversial. 24695082 2014
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE We previously demonstrated that integrin beta(3) Leu33Pro homozygotes have an increased risk of cancer, possibly most pronounced for ovarian cancer. 16322334 2005
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Leu33Pro heterozygotes, homozygotes and heterozygotes+homozygotes vs noncarriers had odds ratios for breast cancer of 1.0 (95% confidence interval: 0.8-1.1), 0.8 (0.5-1.2) and 1.0 (0.8-1.1), respectively. 15970922 2005
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Leu33Pro heterozygotes, homozygotes and heterozygotes+homozygotes vs noncarriers had odds ratios for breast cancer of 1.0 (95% confidence interval: 0.8-1.1), 0.8 (0.5-1.2) and 1.0 (0.8-1.1), respectively. 15970922 2005
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE Platelet glycoprotein IIIa Leu33Pro gene polymorphism and coronary artery disease: A meta-analysis of cohort studies. 25167197 2015
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE The Leu33/Pro polymorphism (PlA1/PlA2) of the glycoprotein IIIa (GPIIIa) receptor is not related to myocardial infarction in the ECTIM Study. Etude Cas-Temoins de l'Infarctus du Myocarde. 9241754 1997
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0010072
Disease:
Coronary Thrombosis
0.020 GeneticVariation BEFREE The PlA polymorphism (Leu33Pro) of the platelet glycoprotein (GP) IIIa gene has been suggested to play an important role in coronary thrombosis. 15166949 2004
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Herein, we evaluated the predictive potential of three germline single nucleotide polymorphisms (SNPs) in the integrin β3 gene (rs3809865, rs5918 and rs4642) to predict the risk of venous thromboembolism (VTE) in colorectal cancer (CRC) patients, which is one of the leading causes of death among cancer patients. 26440977 2015
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE The ITGA2 1648G> and the ITGB3 176T>C polymorphism were not associated with colorectal cancer. 18836731 2009
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0006826
Disease:
Malignant Neoplasms
0.020 GeneticVariation BEFREE We previously demonstrated that integrin beta(3) Leu33Pro homozygotes have an increased risk of cancer, possibly most pronounced for ovarian cancer. 16322334 2005
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE We examined the potential role of polymorphisms of the platelet genes GP1BA (rs2243093, rs6065 and VNTR), ITGB3 (rs5918), ITGA2 (rs938043469) and P2RY12 (rs2046934, rs6801273 and rs6798347) as risk factors for myocardial infarction (MI). 30143348 2018