IFT81, intraflagellar transport 81, 28981

N. diseases: 37; N. variants: 10
Disease: Jeune thoracic dystrophy ×
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: rs200335504
rs200335504 		0.882 0.120 12 110192683 stop gained C/T snv 2.6E-05 7.7E-05
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0