rs1556323334, ATP11C

N. diseases: 2
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.
HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED
CUI: C4746970
Disease: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED
1 0.925 0.080 X 139789451 missense variant G/T snv 0.800 1.000 1 2016 2016
Anemia, Hemolytic, Congenital
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
8 0.925 0.080 X 139789451 missense variant G/T snv 0.010 1.000 1 2019 2019