Variant: rs312262818 

    present in Gene: TRAPPC2;OFD1
    present in Chromosome: X
    Position on Chromosome: 13736626
    Alleles of this Variant: A/G;T

rs312262818 in TRAPPC2;OFD1 gene and Familial aplasia of the vermis PMID 28289185 2017 Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.