Gene: FREM2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114837786
rs114837786
FREM2
0.700 GeneticVariation UNIPROT Loss-of-function mutations in FREM2 disrupt eye morphogenesis. 30802441

2019
dbSNP: rs114837786
rs114837786
FREM2
0.700 GeneticVariation UNIPROT A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. 29688405

2018