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: rs782570472
rs782570472
ABO
9 133256068 synonymous variant G/A snv 1.9E-05 1.4E-05
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.010 1.000 1 2007 2007
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.740 1.000 4 2009 2018
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.740 1.000 4 2009 2015
dbSNP: rs657152
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2010 2010
dbSNP: rs2519093
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.820 1.000 2 2011 2019
dbSNP: rs8176719
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.830 1.000 3 2012 2019
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		0.010 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		0.810 1.000 1 2012 2012
dbSNP: rs8176746
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.020 < 0.001 2 2013 2017
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.720 1.000 2 2013 2018
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke 		0.010 < 0.001 1 2013 2013
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2014 2015
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2014 2015
dbSNP: rs657152
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs657152
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs8176693
rs8176693
ABO
0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		0.010 1.000 1 2014 2014
dbSNP: rs8176693
rs8176693
ABO
0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 1.000 1 2014 2014
dbSNP: rs8176746
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2014 2014
dbSNP: rs8176746
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2014 2014
dbSNP: rs8176746
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2014 2014