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: rs514659
rs514659
ABO
0.882 0.120 9 133266790 intron variant C/A;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2016 2016
dbSNP: rs529565
rs529565
ABO
0.851 0.120 9 133274084 intron variant C/T snv
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2016 2016
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 < 0.001 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 < 0.001 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 < 0.001 1 2019 2019
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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2010 2010
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: rs676457
rs676457
ABO
1.000 0.120 9 133270797 intron variant T/A snv
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs687621
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 1.000 1 2019 2019
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: rs8176668
rs8176668
ABO
9 133268647 intron variant A/T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 < 0.001 1 2017 2017
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: rs8176704
rs8176704
ABO
0.925 0.080 9 133260148 intron variant G/A snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs8176704
rs8176704
ABO
0.925 0.080 9 133260148 intron variant G/A snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2015 2015
dbSNP: rs8176719
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 1.000 1 2018 2018
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: 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