Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064796738
rs1064796738
KIF11
T 0.700 CausalMutation CLINVAR Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. 25124931

2014
dbSNP: rs1064796738
rs1064796738
KIF11
T 0.700 CausalMutation CLINVAR Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 25115524

2014