Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882227
rs730882227
OCLN
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		CT 0.700 GeneticVariation CLINVAR

dbSNP: rs730882227
rs730882227
OCLN
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		CT 0.700 GeneticVariation CLINVAR

dbSNP: rs730882227
rs730882227
OCLN
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		CT 0.700 GeneticVariation CLINVAR