Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147067171
rs147067171
PTCH1
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		C 0.700 GeneticVariation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016
dbSNP: rs765371196
rs765371196
PTCH1 ; LOC100507346
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		C 0.700 GeneticVariation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016