rs749544042, ALPL

N. diseases: 2
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 0.925 0.080 1 21564217 splice donor variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2001 2001
Hypophosphatasia, Perinatal Lethal
CUI: C2673477
Disease: Hypophosphatasia, Perinatal Lethal
2 0.925 0.080 1 21564217 splice donor variant G/A snv 4.0E-06 1.4E-05 0.700 0