TAZ, tafazzin, 6901

N. diseases: 4; N. variants: 24
Disease: Orbital separation excessive ×
Source: CLINVAR ×
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: rs1557194525
rs1557194525 		1.000 0.120 X 154420961 frameshift variant C/- del
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0