DDX59, DEAD-box helicase 59, 83479

N. diseases: 42; N. variants: 2
Disease: Orofaciodigital syndrome 5 ×
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: rs587777067
rs587777067 		1.000 0.080 1 200650639 missense variant A/C;T snv 1.2E-05
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2013 2013
dbSNP: rs886037652
rs886037652 		1.000 0.080 1 200644514 missense variant C/T snv
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2013 2013