Variant: rs757167361 

    present in Gene: DPH1
    present in Chromosome: 17
    Position on Chromosome: 2030171
    Alleles of this Variant: T/A;C;G

rs757167361 in DPH1 gene and DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR PMID 26220823 2015 Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

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