Variant: rs398124645 

    present in Gene: TAF2
    present in Chromosome: 8
    Position on Chromosome: 119783548
    Alleles of this Variant: A/G

rs398124645 in TAF2 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 PMID 24084144 2013 Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.