rs138690664, ALPL

N. diseases: 4
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 0.851 0.120 1 21577421 missense variant C/G;T snv 1.6E-05 3.5E-05 0.700 0
Hereditary pyropoikilocytosis
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
23 0.851 0.120 1 21577421 missense variant C/G;T snv 1.6E-05 3.5E-05 0.010 1.000 1 2006 2006
Hypophosphatasia
CUI: C0020630
Disease: Hypophosphatasia
29 0.851 0.120 1 21577421 missense variant C/G;T snv 1.6E-05 3.5E-05 0.010 1.000 1 2006 2006
Infantile hypophosphatasia
CUI: C0268412
Disease: Infantile hypophosphatasia
76 0.851 0.120 1 21577421 missense variant C/G;T snv 1.6E-05 3.5E-05 0.010 1.000 1 2006 2006