rs74315323, 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 0.882 0.080 1 146018399 missense variant C/A snv 1.7E-04 2.7E-04 0.800 1.000 8 2004 2009
Juvenile hemochromatosis
CUI: C0268060
Disease: Juvenile hemochromatosis
8 0.882 0.080 1 146018399 missense variant C/A snv 1.7E-04 2.7E-04 0.740 1.000 8 2004 2012
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.882 0.080 1 146018399 missense variant C/A snv 1.7E-04 2.7E-04 0.720 1.000 2 2004 2005
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.882 0.080 1 146018399 missense variant C/A snv 1.7E-04 2.7E-04 0.010 1.000 1 2010 2010