NEK1, NIMA related kinase 1, 4750

N. diseases: 131; N. variants: 29
Disease: Short rib-polydactyly syndrome, Beemer type ×
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: rs1301705612
rs1301705612 		1.000 0.080 4 169589493 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Beemer type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0