rs199669988, 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.
Hypophosphatasia
CUI: C0020630
Disease: Hypophosphatasia
29 0.882 0.080 1 21564097 missense variant G/A snv 1.3E-04 3.5E-05 0.700 1.000 7 1998 2018
Adult hypophosphatasia (disorder)
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
57 0.882 0.080 1 21564097 missense variant G/A snv 1.3E-04 3.5E-05 0.700 0
Childhood hypophosphatasia (disorder)
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
17 0.882 0.080 1 21564097 missense variant G/A snv 1.3E-04 3.5E-05 0.700 0