Source: ALL

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: 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 6 2009 2018
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 4 2011 2019
dbSNP: rs507666
rs507666
ABO
1.000 0.040 9 133273983 intron variant A/G snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2013 2019
dbSNP: rs529565
rs529565
ABO
0.851 0.120 9 133274084 intron variant C/T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.800 1.000 4 2011 2016
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: rs507666
rs507666
ABO
1.000 0.040 9 133273983 intron variant A/G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 4 2013 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: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.800 1.000 3 2009 2012
dbSNP: rs687289
rs687289
ABO
1.000 0.120 9 133261703 intron variant A/G snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.800 1.000 3 2011 2019
dbSNP: rs687621
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.800 1.000 3 2011 2013
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 3 2013 2018
dbSNP: rs529565
rs529565
ABO
0.851 0.120 9 133274084 intron variant C/T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.720 0.667 3 2016 2018
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.800 1.000 2 2013 2017
dbSNP: rs612169
rs612169
ABO
9 133268030 intron variant G/A snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.800 1.000 2 2013 2017
dbSNP: rs643434
rs643434
ABO
9 133266942 intron variant A/G;T snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 2 2012 2018
dbSNP: rs687289
rs687289
ABO
1.000 0.120 9 133261703 intron variant A/G snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.800 1.000 2 2013 2019
dbSNP: rs687621
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.800 1.000 2 2010 2013
dbSNP: rs8176746
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2010 2012
dbSNP: rs8176749
rs8176749
ABO
1.000 0.040 9 133255801 synonymous variant C/T snv 0.12 0.11
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2018
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.710 1.000 2 2018 2019
dbSNP: rs10793962
rs10793962
ABO
9 133253728 non coding transcript exon variant A/T snv 0.11
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 2 2018 2018
dbSNP: rs2519093
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 2 2015 2018
dbSNP: rs2519093
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2018
dbSNP: rs507666
rs507666
ABO
1.000 0.040 9 133273983 intron variant A/G snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2019