Variant: rs182018947 

    present in Gene: CEP152
    present in Chromosome: 15
    Position on Chromosome: 48767448
    Alleles of this Variant: A/C;G

rs182018947 in CEP152 gene and SECKEL SYNDROME 5 PMID 21131973 2011 CEP152 is a genome maintenance protein disrupted in Seckel syndrome.