FGF23, fibroblast growth factor 23, 8074

N. diseases: 305; N. variants: 19
Disease: Autosomal dominant 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: rs104894347
rs104894347 		0.925 0.200 12 4370572 missense variant C/T snv 7.0E-06
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.820 1.000 5 2000 2014
dbSNP: rs193922702
rs193922702 		1.000 0.200 12 4370563 missense variant C/T snv 4.0E-06
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.820 1.000 4 2000 2006
dbSNP: rs28937882
rs28937882 		1.000 0.200 12 4370564 missense variant G/A;T snv 4.0E-06
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.800 0
dbSNP: rs193922701
rs193922701 		1.000 0.200 12 4379421 missense variant C/G snv
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant 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