Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918447
rs121918447
ITGB3 ; THCAT158
1.000 0.080 17 47310169 missense variant T/C snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.810 1.000 1 1990 2017
dbSNP: rs121918449
rs121918449
ITGB3
1.000 0.080 17 47291027 missense variant G/A snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.810 1.000 1 1990 2017
dbSNP: rs5918
rs5918
ITGB3
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 		0.030 0.667 3 2005 2010
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.030 0.667 3 2005 2010
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.030 0.667 3 2005 2010
dbSNP: rs2317676
rs2317676
ITGB3 ; THCAT158
0.882 0.160 17 47310917 3 prime UTR variant A/G snv 9.4E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.020 1.000 2 2017 2017
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2005 2015
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 0.500 2 2009 2015
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0010072
Disease: Coronary Thrombosis
Coronary Thrombosis 		0.020 1.000 2 2004 2014
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.020 1.000 2 2015 2017
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2005 2015
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 1.000 2 2005 2016
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2005 2006
dbSNP: rs5918
rs5918
ITGB3
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 		0.020 0.500 2 2005 2006
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 0.500 2 1997 2018
dbSNP: rs5918
rs5918
ITGB3
0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.020 1.000 2 2011 2014
dbSNP: rs958609406
rs958609406
ITGB3
1.000 0.080 17 47284646 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.020 1.000 2 2013 2019
dbSNP: rs1226052130
rs1226052130
ITGB3
0.925 0.120 17 47299308 missense variant G/A snv 4.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2016 2016
dbSNP: rs1226052130
rs1226052130
ITGB3
0.925 0.120 17 47299308 missense variant G/A snv 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2019 2019
dbSNP: rs12603582
rs12603582
ITGB3
1.000 0.040 17 47300211 intron variant G/T snv 0.18
CUI: C0013528
Disease: Echolalia
Echolalia 		0.010 1.000 1 2014 2014
dbSNP: rs12603582
rs12603582
ITGB3
1.000 0.040 17 47300211 intron variant G/T snv 0.18
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 1.000 1 2011 2011
dbSNP: rs15908
rs15908
ITGB3
17 47290971 synonymous variant A/C;G;T snv 0.39; 4.8E-04
CUI: C0013528
Disease: Echolalia
Echolalia 		0.010 1.000 1 2014 2014
dbSNP: rs2056131
rs2056131
ITGB3
1.000 0.080 17 47256377 intron variant A/G snv 0.65
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2011 2011
dbSNP: rs2317385
rs2317385
ITGB3
1.000 0.040 17 47252316 upstream gene variant G/A snv 0.23
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 1.000 1 2019 2019
dbSNP: rs2317676
rs2317676
ITGB3 ; THCAT158
0.882 0.160 17 47310917 3 prime UTR variant A/G snv 9.4E-02
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		0.010 1.000 1 2019 2019