Variant: rs372701032 

    present in Gene: TMCO1
    present in Chromosome: 1
    Position on Chromosome: 165752099
    Alleles of this Variant: C/G;T

rs372701032 in TMCO1 gene and Cerebrofaciothoracic Dysplasia PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.