CILK1, ciliogenesis associated kinase 1, 22858

N. diseases: 142; N. variants: 9
Disease: Short Rib-Polydactyly Syndrome ×
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: rs868310475
rs868310475 		1.000 0.080 6 53032573 stop gained C/A;T snv
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0