rs1057516230, ALPL

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.
Infantile hypophosphatasia
CUI: C0268412
Disease: Infantile hypophosphatasia
76 0.925 0.080 1 21554124 frameshift variant AACT/- delins 0.700 1.000 1 2014 2014
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.925 0.080 1 21554124 frameshift variant AACT/- delins 0.700 0