Variant: rs1468772495 

    present in Gene: C12orf4
    present in Chromosome: 12
    Position on Chromosome: 4518108
    Alleles of this Variant: A/G

rs1468772495 in C12orf4 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 PMID 28097321 2017 Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 27311568 2017 Identification of C12orf4 as a gene for autosomal recessive intellectual disability.