rs121918010, ALPL

N. diseases: 5
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 0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 0.810 1.000 10 1994 2014
Adult hypophosphatasia (disorder)
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
57 0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 0.800 1.000 21 1992 2013
Hypophosphatasia
CUI: C0020630
Disease: Hypophosphatasia
29 0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 0.730 1.000 7 1996 2014
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 0.010 1.000 1 2014 2014
Hereditary pyropoikilocytosis
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
23 0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 0.010 1.000 1 2020 2020