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: 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: rs657152
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
0.700 1.000 2 2008 2013
dbSNP: rs657152
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv
CUI: C0428321
Disease: Measurement of liver enzyme
Measurement of liver enzyme
0.700 1.000 1 2008 2008
dbSNP: rs657152
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv
CUI: C1287351
Disease: Finding of liver enzyme levels
Finding of liver enzyme levels
0.700 1.000 1 2008 2008
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: 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: 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: C2825857
Disease: Factor VIII measurement
Factor VIII measurement
0.700 1.000 2 2010 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
Corpuscular Hemoglobin Concentration Mean
0.800 1.000 2 2010 2012
dbSNP: rs8176746
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.700 1.000 2 2010 2018
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.700 1.000 1 2010 2010
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 4 2011 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: 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: rs514659
rs514659
ABO
0.882 0.120 9 133266790 intron variant C/A;T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.700 1.000 2 2011 2012
dbSNP: rs545971
rs545971
ABO
9 133267960 intron variant T/A;C snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.700 1.000 2 2011 2012
dbSNP: rs612169
rs612169
ABO
9 133268030 intron variant G/A snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.700 1.000 2 2011 2012
dbSNP: rs630014
rs630014
ABO
9 133274306 intron variant G/A;C snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.700 1.000 2 2011 2012
dbSNP: rs643434
rs643434
ABO
9 133266942 intron variant A/G;T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.700 1.000 2 2011 2012
dbSNP: rs644234
rs644234
ABO
9 133266804 intron variant G/T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.700 1.000 2 2011 2012
dbSNP: rs657152
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.700 1.000 2 2011 2012
dbSNP: rs674302
rs674302
ABO
9 133271249 intron variant A/T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.700 1.000 2 2011 2012