rs121918000, 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.
Adult hypophosphatasia (disorder)
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
57 0.925 0.080 1 21564103 missense variant G/A snv 1.2E-05 0.700 1.000 20 1992 2013
Infantile hypophosphatasia
CUI: C0268412
Disease: Infantile hypophosphatasia
76 0.925 0.080 1 21564103 missense variant G/A snv 1.2E-05 0.700 1.000 5 1988 2012