IFT140, intraflagellar transport 140, 9742

N. diseases: 124; N. variants: 37
Disease: Mainzer-Saldino Disease ×
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: rs1085307074
rs1085307074 		1.000 0.160 16 1584409 frameshift variant C/- delins
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013