present in Gene: PTCH1
present in Chromosome: 9
Position on Chromosome: 95447309
Alleles of this Variant: T/C
rs147067171 in
PTCH1 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.
rs147067171 in
PTCH1 gene and
Rieger syndrome
PMID 26893459 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.