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: rs1554708787
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1996 2016
dbSNP: rs1554708787
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 13 1996 2016
dbSNP: rs1554708787
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 13 1996 2016