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.
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
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
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
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.929 14 2000 2010
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.833 12 2001 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.917 12 2000 2015
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.636 11 2007 2016
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
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.818 11 1999 2011
Porphyria Cutanea Tarda
CUI: C0162566
Disease: Porphyria Cutanea Tarda
39 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.909 11 1998 2014
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
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.090 0.889 9 2001 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.080 0.875 8 2006 2015
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
Hepatitis C, Chronic
CUI: C0524910
Disease: Hepatitis C, Chronic
80 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.080 0.875 8 1999 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.080 0.875 8 2006 2015
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
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
58 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.070 1.000 7 1999 2002
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.060 1.000 6 1998 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.060 1.000 6 2004 2016