IFT80, intraflagellar transport 80, 57560

N. diseases: 109; 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: rs138004478
rs138004478 		0.882 0.120 3 160356069 missense variant C/G;T snv 6.8E-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
dbSNP: rs1553753582
rs1553753582 		1.000 0.120 3 160280770 missense variant G/A snv
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
dbSNP: rs372576954
rs372576954 		1.000 0.120 3 160357556 missense variant A/T snv 4.0E-06
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