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.
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
CUI: C1856170
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
HEMOCHROMATOSIS, JUVENILE, DIGENIC
CUI: C3150862
Disease: HEMOCHROMATOSIS, JUVENILE, DIGENIC
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
CUI: C2673520
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
CUI: C2673517
Disease: PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
CUI: C2673518
Disease: PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
CUI: C3280096
Disease: TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
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
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
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 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
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: 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
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
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
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
81 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.060 1.000 6 1998 2012
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
31 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 1998 2009
Meconium ileus
CUI: C2939175
Disease: Meconium ileus
16 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 1998 2019
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 0.667 3 1998 2009
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 1998 2001
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 1998 2003
Siderosis
CUI: C0037061
Disease: Siderosis
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 1998 2010
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