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: C0265341
Disease: Rieger syndrome
Rieger syndrome 		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: rs372027952
rs372027952
PTCH1
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		A 0.700 GeneticVariation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016