rs121434374, HJV

N. diseases: 4
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, TYPE 2A
CUI: C1865614
Disease: HEMOCHROMATOSIS, TYPE 2A
13 0.851 0.080 1 146018395 stop gained G/C;T snv 1.2E-05; 4.0E-06 0.800 1.000 4 2004 2004
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.851 0.080 1 146018395 stop gained G/C;T snv 1.2E-05; 4.0E-06 0.700 0
Iron Overload
CUI: C0282193
Disease: Iron Overload
53 0.851 0.080 1 146018395 stop gained G/C;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2004 2004
Juvenile hemochromatosis
CUI: C0268060
Disease: Juvenile hemochromatosis
8 0.851 0.080 1 146018395 stop gained G/C;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2004 2004