Variant: rs587777030 

    present in Gene: HCFC1R1;THOC6
    present in Chromosome: 16
    Position on Chromosome: 3025804
    Alleles of this Variant: G/A

rs587777030 in HCFC1R1;THOC6 gene and THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.