rs121918018, 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.
Adult hypophosphatasia (disorder)
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
57 0.882 0.120 1 21568201 missense variant G/C;T snv 1.6E-05; 4.0E-06 0.700 1.000 20 1992 2013
Childhood hypophosphatasia (disorder)
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
17 0.882 0.120 1 21568201 missense variant G/C;T snv 1.6E-05; 4.0E-06 0.700 0
ODONTOHYPOPHOSPHATASIA (disorder)
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
4 0.882 0.120 1 21568201 missense variant G/C;T snv 1.6E-05; 4.0E-06 0.700 0