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: 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: rs8176643
rs8176643
ABO
9 133274294 intron variant C/- del
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs8176643
rs8176643
ABO
9 133274294 intron variant C/- del
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs8176643
rs8176643
ABO
9 133274294 intron variant C/- del
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs139840563
rs139840563
ABO
9 133271018 intron variant -/GACAA;GACAAGACAA delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs149037075
rs149037075
ABO
9 133255469 3 prime UTR variant CTGT/- delins 0.15
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs149037075
rs149037075
ABO
9 133255469 3 prime UTR variant CTGT/- delins 0.15
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs149037075
rs149037075
ABO
9 133255469 3 prime UTR variant CTGT/- delins 0.15
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs202001822
rs202001822
ABO
9 133270005 intron variant A/-;AA;AAA;AAAAAA delins
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs35230453
rs35230453
ABO
9 133266030 intron variant AA/-;A;AAA;AAAA;AAAAA;AAAAAA;AAAAAAAAAAA delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs587729126
rs587729126
ABO
9 133263363 intron variant CACCACTACGCC/- delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs8176685
rs8176685
ABO
9 133263363 intron variant CACCACTACGCC/- delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs8176685
rs8176685
ABO
9 133263363 intron variant CACCACTACGCC/- delins
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs8176685
rs8176685
ABO
9 133263363 intron variant CACCACTACGCC/- delins
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs8176685
rs8176685
ABO
9 133263363 intron variant CACCACTACGCC/- delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
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: 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: 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