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.
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
45 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.030 1.000 3 2001 2003
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
62 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.030 1.000 3 2001 2003
HEMOCHROMATOSIS, TYPE 3
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
20 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.030 1.000 3 2001 2006
Iron Overload
CUI: C0282193
Disease: Iron Overload
53 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.020 1.000 2 2001 2003
Porphyria Cutanea Tarda
CUI: C0162566
Disease: Porphyria Cutanea Tarda
39 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.020 1.000 2 2006 2008
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
154 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
Childhood Acute Lymphoblastic Leukemia
261 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2008 2008
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2001 2001
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005