CEP97, centrosomal protein 97, 79598

N. diseases: 4; N. variants: 1
Disease: Global developmental delay ×
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: rs1060499739
rs1060499739 		1.000 3 101757754 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0