rs137852310, ALAS2

N. diseases: 3
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.
X-linked sideroblastic anemia
CUI: C4551511
Disease: X-linked sideroblastic anemia
23 0.882 0.120 X 55021095 missense variant A/G snv 0.810 1.000 1 1999 1999
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.882 0.120 X 55021095 missense variant A/G snv 0.010 1.000 1 1999 1999
Iron Overload
CUI: C0282193
Disease: Iron Overload
53 0.882 0.120 X 55021095 missense variant A/G snv 0.010 1.000 1 1999 1999