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 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 0.973 260 1997 2019
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
62 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.900 0.976 248 1996 2019
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
45 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.974 230 1997 2019
Iron Overload
CUI: C0282193
Disease: Iron Overload
53 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.946 167 1997 2019
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.970 33 2000 2018
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.963 27 2000 2018
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.895 19 1998 2019
Porphyria Cutanea Tarda
CUI: C0162566
Disease: Porphyria Cutanea Tarda
39 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.889 18 1998 2014
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.882 17 1998 2020
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.882 17 2000 2015
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.800 15 2000 2019
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.800 15 2000 2019
Hypocalciuric hypercalcemia, familial, type 1
58 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 1.000 12 1998 2007
Diabetes Mellitus, Non-Insulin-Dependent
2672 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.818 11 2001 2016
Iron deficiency
CUI: C0240066
Disease: Iron deficiency
13 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 1.000 11 1998 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 1.000 11 2003 2016
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
64 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 1.000 10 1999 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.090 0.778 9 2004 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.090 1.000 9 2003 2016
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.080 0.875 8 2002 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.080 0.875 8 2003 2019
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 1.000 7 2001 2009
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 0.857 7 2001 2013
Hepatitis C, Chronic
CUI: C0524910
Disease: Hepatitis C, Chronic
80 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 0.857 7 1998 2020
Malignant neoplasm of colon and/or rectum
502 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 0.857 7 2003 2015