Variant: rs318240750 

    present in Gene: CDKN1C
    present in Chromosome: 11
    Position on Chromosome: 2884119
    Alleles of this Variant: C/A;G

rs318240750 in CDKN1C gene and Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies PMID 22634751 2012 Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.