Variant: rs267607151 

    present in Gene: TSPAN12
    present in Chromosome: 7
    Position on Chromosome: 120806599
    Alleles of this Variant: C/G

rs267607151 in TSPAN12 gene and Exudative Vitreoretinopathy 5 PMID 22427576 2012 Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

PMID 20159111 2010 Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

PMID 20159112 2010 Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.