Variant: rs372929441 

    present in Gene: SLC38A8
    present in Chromosome: 16
    Position on Chromosome: 84022883
    Alleles of this Variant: C/A;T

rs372929441 in SLC38A8 gene and FOVEAL HYPOPLASIA 2 PMID 24290379 2013 Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

PMID 24045842 2014 Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.