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: 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: rs187099314
rs187099314
ABO
9 133255354 3 prime UTR variant C/G;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
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: rs2519093
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv
CUI: C4722217
Disease: E-selectin Measurement
E-selectin Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2519093
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2519093
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs492488
rs492488
ABO
9 133269548 intron variant A/C;G;T snv
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 < 0.001 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.700 1.000 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 < 0.001 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 < 0.001 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs550057
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs62641786
rs62641786
ABO
9 133255290 3 prime UTR variant T/C;G snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs660340
rs660340
ABO
9 133272138 intron variant G/A snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs676996
rs676996
ABO
9 133270647 intron variant G/T snv
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs687621
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs687621
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs7857390
rs7857390
ABO
9 133253159 non coding transcript exon variant A/G snv 0.67
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: 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: 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: rs8176746
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019