ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Disease: Frontal bossing ×
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: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs864309499
rs864309499 		0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0