Disease: Hypophosphatemic Rickets ×
Source: ALL
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: rs1057518896
rs1057518896 		1.000 0.080 X 22247868 stop gained -/AACT delins
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0