rs146927457, ATP12A

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.
Hereditary pyropoikilocytosis
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
23 0.925 0.120 13 24688392 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.010 1.000 1 2016 2016
Hypophosphatasia
CUI: C0020630
Disease: Hypophosphatasia
29 0.925 0.120 13 24688392 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.010 1.000 1 2016 2016