Variant: rs114837786 

    present in Gene: FREM2
    present in Chromosome: 13
    Position on Chromosome: 38850157
    Alleles of this Variant: C/A;G;T

rs114837786 in FREM2 gene and Cryptophthalmos, Unilateral or Bilateral, Isolated PMID 30802441 2019 Loss-of-function mutations in FREM2 disrupt eye morphogenesis.

PMID 29688405 2018 A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

rs114837786 in FREM2 gene and FRASER SYNDROME 2 PMID 15838507 2005 Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

PMID 29688405 2018 A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

PMID 30802441 2019 Loss-of-function mutations in FREM2 disrupt eye morphogenesis.