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.
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 0.991 114 1996 2019
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
62 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 0.960 99 1996 2019
Iron Overload
CUI: C0282193
Disease: Iron Overload
53 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.886 79 1997 2019
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
45 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.961 77 1997 2019
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.840 1.000 5 2011 2019
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 1998 2019
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 1998 2019
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
19 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2004 2019
Iron deficiency
CUI: C0240066
Disease: Iron deficiency
13 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2003 2019
Distal ileal obstruction syndrome
CUI: C0854076
Disease: Distal ileal obstruction syndrome
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2019 2019
Meconium ileus
CUI: C2939175
Disease: Meconium ileus
16 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2019 2019
Restless Legs Syndrome
CUI: C0035258
Disease: Restless Legs Syndrome
72 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2019 2019
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 1.000 10 2006 2018
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.080 0.875 8 2000 2018
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.070 0.857 7 2000 2018
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
1037 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 6 2011 2018
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
1931 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 5 2011 2018
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2002 2018
Corpuscular Hemoglobin Concentration Mean
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
4389 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 1.000 3 2012 2018
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
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2018 2018
Iron deficiency anemia
CUI: C0162316
Disease: Iron deficiency anemia
21 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2018 2018
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.909 11 2001 2017
Childhood Acute Lymphoblastic Leukemia
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
261 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 1.000 5 2002 2017
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
103 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2002 2017