Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201111299
rs201111299
CENPJ
0.882 0.240 13 24906906 stop gained G/A snv 8.4E-05 9.1E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs759188041
rs759188041
CENPJ
0.882 0.240 13 24912736 frameshift variant -/T delins 3.2E-05 3.5E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0