PUF60, poly(U) binding splicing factor 60, 22827

N. diseases: 188; N. variants: 24
Disease: Submucous cleft palate ×
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: rs1554643142
rs1554643142 		0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins
CUI: C4551487
Disease: Submucous cleft palate
Submucous cleft palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0