Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs147067171
rs147067171
PTCH1
0.925 0.080 9 95447309 missense variant T/C snv 5.5E-04 5.0E-04
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs372027952
rs372027952
PTCH1
1.000 0.080 9 95447367 missense variant G/A snv 3.2E-05 4.2E-05
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		0.700 1.000 1 2016 2016