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: rs1554691658
rs1554691658
PTCH1
0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0