rs863223904, ALAS2

N. diseases: 5
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 0.827 0.200 X 55014829 missense variant C/T snv 6.1E-06 0.700 1.000 10 1992 2011
Hereditary sideroblastic anemia
CUI: C0221018
Disease: Hereditary sideroblastic anemia
1 0.827 0.200 X 55014829 missense variant C/T snv 6.1E-06 0.010 1.000 1 1997 1997
Iron Overload
CUI: C0282193
Disease: Iron Overload
53 0.827 0.200 X 55014829 missense variant C/T snv 6.1E-06 0.010 1.000 1 2006 2006
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.827 0.200 X 55014829 missense variant C/T snv 6.1E-06 0.010 1.000 1 2006 2006
Sideroblastic anemia
CUI: C0002896
Disease: Sideroblastic anemia
11 0.827 0.200 X 55014829 missense variant C/T snv 6.1E-06 0.010 1.000 1 2006 2006