Variant: rs1048865247 

    present in Gene: TSPAN1;POMGNT1
    present in Chromosome: 1
    Position on Chromosome: 46195887
    Alleles of this Variant: G/C

rs1048865247 in TSPAN1;POMGNT1 gene and Muscle eye brain disease PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.