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: rs863225055
rs863225055
PTCH1
0.925 0.160 9 95476760 frameshift variant AAAAGGGATTC/- delins
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		0.700 0
dbSNP: rs863225055
rs863225055
PTCH1
0.925 0.160 9 95476760 frameshift variant AAAAGGGATTC/- delins
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		0.700 0
dbSNP: rs863225055
rs863225055
PTCH1
0.925 0.160 9 95476760 frameshift variant AAAAGGGATTC/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0