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: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 1 2016 2016
dbSNP: rs765371196
rs765371196
PTCH1 ; LOC100507346
1.000 9 95461864 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 1 2016 2016