Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Familial porphyria cutanea tarda
CUI: C0268323
Disease: Familial porphyria cutanea tarda
6 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 0
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
CUI: C2673520
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 0
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
CUI: C3280096
Disease: TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 0
Variegate Porphyria
CUI: C0162532
Disease: Variegate Porphyria
24 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.710 1.000 1 1999 1999
Diastolic blood pressure measurement
CUI: C1305849
Disease: Diastolic blood pressure measurement
81 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
Ferritin measurement
CUI: C0373607
Disease: Ferritin measurement
21 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
Finding of Mean Corpuscular Hemoglobin
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
1206 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2018 2018
Hematocrit procedure
CUI: C0018935
Disease: Hematocrit procedure
216 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2016 2016
Hemoglobin, CTCAE
CUI: C2239101
Disease: Hemoglobin, CTCAE
26 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2009 2009
Iron level result
CUI: C0428578
Disease: Iron level result
16 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
Iron measurement
CUI: C0337439
Disease: Iron measurement
16 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
Mean blood pressure
CUI: C0428886
Disease: Mean blood pressure
344 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2016 2016
Platelet Count measurement
CUI: C0032181
Disease: Platelet Count measurement
457 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2016 2016
RDW - Red blood cell distribution width result
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
988 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
1599 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2009 2009
Red cell distribution width determination
CUI: C0427460
Disease: Red cell distribution width determination
988 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
Reticulocyte count (procedure)
CUI: C0206161
Disease: Reticulocyte count (procedure)
474 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2016 2016
Serum ferritin measurement
CUI: C0696113
Disease: Serum ferritin measurement
21 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
Systolic blood pressure measurement
CUI: C1306620
Disease: Systolic blood pressure measurement
95 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
Transferrin saturation measurement
CUI: C1277709
Disease: Transferrin saturation measurement
36 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2017 2017
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2007 2007
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
72 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2015 2015
Adult Non-Hodgkin Lymphoma
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
39 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004