rs121918014, 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.
Adult hypophosphatasia (disorder)
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
57 0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05 0.700 1.000 20 1992 2013
Infantile hypophosphatasia
CUI: C0268412
Disease: Infantile hypophosphatasia
76 0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05 0.700 1.000 6 2001 2017
Hypophosphatasia, Perinatal Lethal
CUI: C2673477
Disease: Hypophosphatasia, Perinatal Lethal
2 0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05 0.700 0
Hypophosphatasia
CUI: C0020630
Disease: Hypophosphatasia
29 0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05 0.020 1.000 2 2001 2013
Hereditary pyropoikilocytosis
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
23 0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05 0.010 1.000 1 2013 2013