Disease: Familial 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: rs875989883
rs875989883 		0.851 0.280 X 22219070 missense variant G/A;C snv
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs755686699
rs755686699 		0.882 0.200 X 22221653 stop gained G/A;T snv 5.5E-06
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.010 1.000 1 2007 2007