rs730882227, OCLN

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cerebral calcification
CUI: C0270685
Disease: Cerebral calcification
8 0.925 0.120 5 69509603 frameshift variant -/T delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.120 5 69509603 frameshift variant -/T delins 0.700 0
Primary microcephaly
CUI: C0431350
Disease: Primary microcephaly
9 0.925 0.120 5 69509603 frameshift variant -/T delins 0.700 0