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: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2018 2019
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: 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: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 2 2012 2018
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: 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: 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
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: 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: rs8176741
rs8176741
ABO
9 133256074 synonymous variant G/A snv 0.12 0.11
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 2 2017 2018
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: 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: 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: rs10793962
rs10793962
ABO
9 133253728 non coding transcript exon variant A/T snv 0.11
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs10901252
rs10901252
ABO
9 133252613 non coding transcript exon variant G/C snv 0.11
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs10901252
rs10901252
ABO
9 133252613 non coding transcript exon variant G/C snv 0.11
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs10901252
rs10901252
ABO
9 133252613 non coding transcript exon variant G/C snv 0.11
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs10901253
rs10901253
ABO
9 133253385 non coding transcript exon variant T/C snv 0.27
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.700 1.000 1 2012 2012
dbSNP: rs11244052
rs11244052
ABO
9 133253738 non coding transcript exon variant C/A snv 0.25
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.700 1.000 1 2012 2012
dbSNP: rs11244053
rs11244053
ABO
9 133253973 non coding transcript exon variant A/G snv 0.27
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.700 1.000 1 2012 2012
dbSNP: rs115478735
rs115478735
ABO
9 133274295 intron variant A/T snv 0.14
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018