Variant: rs1263369560 

    present in Gene: SPATA5
    present in Chromosome: 4
    Position on Chromosome: 122979231
    Alleles of this Variant: G/C

rs1263369560 in SPATA5 gene and EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME PMID 26299366 2015 Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.