rs149889416, 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.
Infantile hypophosphatasia
CUI: C0268412
Disease: Infantile hypophosphatasia
76 0.882 0.160 1 21577436 missense variant G/A snv 4.5E-05 3.5E-05 0.700 1.000 5 2004 2016
Hypophosphatasia
CUI: C0020630
Disease: Hypophosphatasia
29 0.882 0.160 1 21577436 missense variant G/A snv 4.5E-05 3.5E-05 0.700 1.000 4 2004 2016
Uremia
CUI: C0041948
Disease: Uremia
2 0.882 0.160 1 21577436 missense variant G/A snv 4.5E-05 3.5E-05 0.010 1.000 1 2015 2015