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: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.840 1.000 5 2011 2019
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
0.800 0.991 114 1996 2019
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.800 0.960 99 1996 2019
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.800 0.882 17 2003 2016
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
Corpuscular Hemoglobin Concentration Mean
0.800 1.000 3 2012 2018
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.800 1.000 2 2009 2016
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.720 1.000 2 2003 2010
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria
0.710 1.000 1 1999 1999
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 6 2011 2018
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 5 2011 2018
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
0.700 1.000 2 2011 2011
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement
0.700 1.000 2 2011 2017
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement
0.700 1.000 1 2017 2017
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0337439
Disease: Iron measurement
Iron measurement
0.700 1.000 1 2011 2011
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2018 2018
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.700 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
Diastolic blood pressure measurement
0.700 1.000 1 2011 2011
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0428578
Disease: Iron level result
Iron level result
0.700 1.000 1 2011 2011
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
Red cell distribution width determination
0.700 1.000 1 2017 2017
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0696113
Disease: Serum ferritin measurement
Serum ferritin measurement
0.700 1.000 1 2017 2017
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0373607
Disease: Ferritin measurement
Ferritin measurement
0.700 1.000 1 2017 2017
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement
0.700 1.000 1 2011 2011
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C2239101
Disease: Hemoglobin, CTCAE
Hemoglobin, CTCAE
0.700 1.000 1 2009 2009