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: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		0.810 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.800 1.000 1 2013 2013
dbSNP: rs514659
rs514659
ABO
0.882 0.120 9 133266790 intron variant C/A;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.800 1.000 1 2011 2011
dbSNP: rs643434
rs643434
ABO
9 133266942 intron variant A/G;T snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.800 1.000 1 2013 2013
dbSNP: rs644234
rs644234
ABO
9 133266804 intron variant G/T snv
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.800 1.000 1 2012 2012
dbSNP: rs657152
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.800 1.000 1 2013 2013
dbSNP: rs687621
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		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: C0024530
Disease: Malaria
Malaria 		0.800 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: rs8176743
rs8176743
ABO
1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.800 1.000 1 2013 2013
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
dbSNP: rs116552240
rs116552240
ABO
9 133273682 intron variant A/T snv
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.700 1.000 1 2015 2015
dbSNP: rs12216891
rs12216891
ABO
9 133251979 non coding transcript exon variant C/T snv 7.8E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12554336
rs12554336
ABO
9 133253276 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: rs12554339
rs12554339
ABO
9 133253350 non coding transcript exon variant A/C snv 0.25
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.700 1.000 1 2012 2012
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