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: rs8176720
rs8176720
ABO
9 133257486 synonymous variant T/A;C;G snv 0.40 0.40
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.700 1.000 1 2013 2013
dbSNP: rs8176720
rs8176720
ABO
9 133257486 synonymous variant T/A;C;G snv 0.40 0.40
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8176720
rs8176720
ABO
9 133257486 synonymous variant T/A;C;G snv 0.40 0.40
CUI: C4722217
Disease: E-selectin Measurement
E-selectin Measurement 		0.700 1.000 1 2017 2017
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: rs8176719
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs8176719
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
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: rs8176719
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35
CUI: C0024530
Disease: Malaria
Malaria 		0.800 1.000 1 2012 2012
dbSNP: rs8176719
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs8176748
rs8176748
ABO
9 133255902 missense variant C/A;T snv 4.0E-06; 0.27
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs8176748
rs8176748
ABO
9 133255902 missense variant C/A;T snv 4.0E-06; 0.27
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.700 1.000 1 2012 2012
dbSNP: rs8176740
rs8176740
ABO
9 133256085 missense variant A/T snv 0.25 0.25
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8176740
rs8176740
ABO
9 133256085 missense variant A/T snv 0.25 0.25
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs8176742
rs8176742
ABO
9 133256050 synonymous variant C/T snv 0.24 0.22
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.700 1.000 1 2012 2012
dbSNP: rs8176751
rs8176751
ABO
1.000 0.040 9 133255635 synonymous variant C/A;T snv 0.13
CUI: C0024530
Disease: Malaria
Malaria 		0.700 1.000 1 2013 2013
dbSNP: rs7853989
rs7853989
ABO
9 133256205 missense variant G/A;C snv 1.2E-05; 0.13
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs7853989
rs7853989
ABO
9 133256205 missense variant G/A;C snv 1.2E-05; 0.13
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8176722
rs8176722
ABO
1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12
CUI: C0024530
Disease: Malaria
Malaria 		0.800 1.000 1 2013 2013
dbSNP: rs8176722
rs8176722
ABO
1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs8176722
rs8176722
ABO
1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: rs8176743
rs8176743
ABO
1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2014 2014
dbSNP: rs8176743
rs8176743
ABO
1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs8176743
rs8176743
ABO
1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8176743
rs8176743
ABO
1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018