CILK1, ciliogenesis associated kinase 1, 22858

N. diseases: 142; N. variants: 9
Disease: Endocrine-Cerebroosteodysplasia ×
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: rs118203918
rs118203918 		0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06
CUI: C2675227
Disease: Endocrine-Cerebroosteodysplasia
Endocrine-Cerebroosteodysplasia 		Nervous System Diseases; Endocrine System Diseases 0.800 0
dbSNP: rs1157785470
rs1157785470 		1.000 0.080 6 53031065 missense variant C/A;T snv 8.0E-06
CUI: C2675227
Disease: Endocrine-Cerebroosteodysplasia
Endocrine-Cerebroosteodysplasia 		Nervous System Diseases; Endocrine System Diseases 0.700 0