rs766076920, ALPL

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.
Infantile hypophosphatasia
CUI: C0268412
Disease: Infantile hypophosphatasia
76 0.882 0.080 1 21568122 missense variant C/T snv 8.0E-06 2.1E-05 0.700 1.000 9 1998 2013
Adult hypophosphatasia (disorder)
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
57 0.882 0.080 1 21568122 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
Childhood hypophosphatasia (disorder)
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
17 0.882 0.080 1 21568122 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0