rs786204473, 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 0.925 0.080 1 21573673 missense variant G/A snv 0.700 1.000 20 1992 2013
Infantile hypophosphatasia
CUI: C0268412
Disease: Infantile hypophosphatasia
76 0.925 0.080 1 21573673 missense variant G/A snv 0.700 1.000 3 1998 2002
Convulsions
CUI: C4048158
Disease: Convulsions
4 0.925 0.080 1 21573673 missense variant G/A snv 0.010 1.000 1 2002 2002
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.080 1 21573673 missense variant G/A snv 0.010 1.000 1 2002 2002