rs121918015, 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 0.160 1 21563135 missense variant C/T snv 0.700 1.000 20 1992 2013
ODONTOHYPOPHOSPHATASIA (disorder)
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
4 0.882 0.160 1 21563135 missense variant C/T snv 0.700 0
Hereditary pyropoikilocytosis
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
23 0.882 0.160 1 21563135 missense variant C/T snv 0.010 1 2015 2015