Variant: rs765371196 

    present in Gene: PTCH1;LOC100507346
    present in Chromosome: 9
    Position on Chromosome: 95461864
    Alleles of this Variant: T/C

rs765371196 in PTCH1;LOC100507346 gene and ANTERIOR SEGMENT DYSGENESIS 5 PMID 26893459 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.