rs80356713, ABCB7

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.
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
5 0.925 0.120 X 75070499 missense variant C/A;G snv 0.800 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.925 0.120 X 75070499 missense variant C/A;G snv 0.010 1.000 1 2001 2001
Sideroblastic anemia
CUI: C0002896
Disease: Sideroblastic anemia
11 0.925 0.120 X 75070499 missense variant C/A;G snv 0.010 1.000 1 2001 2001