Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918014
rs121918014
0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05
CUI: C2673477
Disease: Hypophosphatasia, Perinatal Lethal
Hypophosphatasia, Perinatal Lethal
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs749544042
rs749544042
0.925 0.080 1 21564217 splice donor variant G/A snv 4.0E-06 1.4E-05
CUI: C2673477
Disease: Hypophosphatasia, Perinatal Lethal
Hypophosphatasia, Perinatal Lethal
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0