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: rs730882227
rs730882227
OCLN
0.925 0.120 5 69509603 frameshift variant -/T delins
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.700 0
dbSNP: rs730882227
rs730882227
OCLN
0.925 0.120 5 69509603 frameshift variant -/T delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882227
rs730882227
OCLN
0.925 0.120 5 69509603 frameshift variant -/T delins
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		0.700 0